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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 14-77311960-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=77311960&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 77311960,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000261534.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "NM_013382.7",
"protein_id": "NP_037514.2",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 750,
"cds_start": 322,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": "ENST00000261534.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "ENST00000261534.9",
"protein_id": "ENSP00000261534.4",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 750,
"cds_start": 322,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": "NM_013382.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.249-5519C>T",
"hgvs_p": null,
"transcript": "ENST00000556326.5",
"protein_id": "ENSP00000450630.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "ENST00000682795.1",
"protein_id": "ENSP00000507574.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 799,
"cds_start": 322,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "ENST00000682247.1",
"protein_id": "ENSP00000507213.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 774,
"cds_start": 322,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "ENST00000682467.1",
"protein_id": "ENSP00000508062.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 703,
"cds_start": 322,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 4604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "XM_047431312.1",
"protein_id": "XP_047287268.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 826,
"cds_start": 322,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 5103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "XM_011536675.3",
"protein_id": "XP_011534977.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 813,
"cds_start": 322,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 5064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "XM_047431313.1",
"protein_id": "XP_047287269.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 763,
"cds_start": 322,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 4914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "XM_047431315.1",
"protein_id": "XP_047287271.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 685,
"cds_start": 322,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "XM_047431316.1",
"protein_id": "XP_047287272.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 673,
"cds_start": 322,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 4644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "XM_011536677.4",
"protein_id": "XP_011534979.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 660,
"cds_start": 322,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 4605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "XM_047431318.1",
"protein_id": "XP_047287274.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 597,
"cds_start": 322,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 4416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.345C>T",
"hgvs_p": null,
"transcript": "ENST00000452340.7",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.203C>T",
"hgvs_p": null,
"transcript": "ENST00000554948.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.156C>T",
"hgvs_p": null,
"transcript": "ENST00000555788.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.412C>T",
"hgvs_p": null,
"transcript": "ENST00000557525.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.268C>T",
"hgvs_p": null,
"transcript": "ENST00000682382.1",
"protein_id": "ENSP00000507975.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.115C>T",
"hgvs_p": null,
"transcript": "ENST00000683188.1",
"protein_id": "ENSP00000507734.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.190C>T",
"hgvs_p": null,
"transcript": "ENST00000683828.1",
"protein_id": "ENSP00000507134.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.68C>T",
"hgvs_p": null,
"transcript": "ENST00000684102.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.173C>T",
"hgvs_p": null,
"transcript": "ENST00000684259.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.*142C>T",
"hgvs_p": null,
"transcript": "ENST00000684344.1",
"protein_id": "ENSP00000507432.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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},
{
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],
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"exon_count": 4,
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},
{
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"protein_coding": false,
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"consequences": [
"3_prime_UTR_variant"
],
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"transcript": "ENST00000684344.1",
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},
{
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"protein_coding": true,
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"consequences": [
"intron_variant"
],
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"exon_count": 17,
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"gene_symbol": "POMT2",
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"hgvs_c": "c.249-7160C>T",
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"transcript": "ENST00000556394.2",
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},
{
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"protein_coding": true,
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"intron_variant"
],
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"exon_count": 22,
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"gene_symbol": "POMT2",
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"hgvs_c": "c.1-5519C>T",
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"transcript": "XM_047431314.1",
"protein_id": "XP_047287270.1",
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"cds_length": 2148,
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"feature": null
}
],
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"dbsnp": "rs1555355402",
"frequency_reference_population": 0.0000013681781,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136818,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9367971420288086,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.933,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9401,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.482,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000261534.9",
"gene_symbol": "POMT2",
"hgnc_id": 19743,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser"
}
],
"clinvar_disease": " type A2, type B2,Autosomal recessive limb-girdle muscular dystrophy type 2N,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Autosomal recessive limb-girdle muscular dystrophy type 2N;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}