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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: 14-77279849-CCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=77279849&ref=CCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 77279849,
"ref": "CCT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_013382.7",
"consequences": [
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1863_1864delAG",
"hgvs_p": "p.Ala623fs",
"transcript": "NM_013382.7",
"protein_id": "NP_037514.2",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 750,
"cds_start": 1863,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261534.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013382.7"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1863_1864delAG",
"hgvs_p": "p.Ala623fs",
"transcript": "ENST00000261534.9",
"protein_id": "ENSP00000261534.4",
"transcript_support_level": 1,
"aa_start": 621,
"aa_end": null,
"aa_length": 750,
"cds_start": 1863,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013382.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261534.9"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1863_1864delAG",
"hgvs_p": "p.Ala623fs",
"transcript": "ENST00000682795.1",
"protein_id": "ENSP00000507574.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 799,
"cds_start": 1863,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682795.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1863_1864delAG",
"hgvs_p": "p.Ala623fs",
"transcript": "ENST00000923942.1",
"protein_id": "ENSP00000594001.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 778,
"cds_start": 1863,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923942.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1944_1945delAG",
"hgvs_p": "p.Ala650fs",
"transcript": "ENST00000947742.1",
"protein_id": "ENSP00000617801.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 777,
"cds_start": 1944,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947742.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1863_1864delAG",
"hgvs_p": "p.Ala623fs",
"transcript": "ENST00000682247.1",
"protein_id": "ENSP00000507213.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 774,
"cds_start": 1863,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682247.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1902_1903delAG",
"hgvs_p": "p.Ala636fs",
"transcript": "ENST00000905355.1",
"protein_id": "ENSP00000575414.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 763,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905355.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1863_1864delAG",
"hgvs_p": "p.Ala623fs",
"transcript": "ENST00000682467.1",
"protein_id": "ENSP00000508062.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 703,
"cds_start": 1863,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682467.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1620_1621delAG",
"hgvs_p": "p.Ala542fs",
"transcript": "ENST00000947744.1",
"protein_id": "ENSP00000617803.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 669,
"cds_start": 1620,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947744.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1422_1423delAG",
"hgvs_p": "p.Ala476fs",
"transcript": "ENST00000947743.1",
"protein_id": "ENSP00000617802.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 603,
"cds_start": 1422,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947743.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1404_1405delAG",
"hgvs_p": "p.Ala470fs",
"transcript": "ENST00000556394.2",
"protein_id": "ENSP00000451967.2",
"transcript_support_level": 3,
"aa_start": 468,
"aa_end": null,
"aa_length": 597,
"cds_start": 1404,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556394.2"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.264_265delAG",
"hgvs_p": "p.Ala90fs",
"transcript": "ENST00000556171.1",
"protein_id": "ENSP00000451651.1",
"transcript_support_level": 3,
"aa_start": 88,
"aa_end": null,
"aa_length": 191,
"cds_start": 264,
"cds_end": null,
"cds_length": 578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556171.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.150_151delAG",
"hgvs_p": "p.Ala52fs",
"transcript": "ENST00000682973.1",
"protein_id": "ENSP00000508268.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 58,
"cds_start": 150,
"cds_end": null,
"cds_length": 178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682973.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1902_1903delAG",
"hgvs_p": "p.Ala636fs",
"transcript": "XM_047431312.1",
"protein_id": "XP_047287268.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 826,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431312.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1863_1864delAG",
"hgvs_p": "p.Ala623fs",
"transcript": "XM_011536675.3",
"protein_id": "XP_011534977.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 813,
"cds_start": 1863,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536675.3"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1902_1903delAG",
"hgvs_p": "p.Ala636fs",
"transcript": "XM_047431313.1",
"protein_id": "XP_047287269.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 763,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431313.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1569_1570delAG",
"hgvs_p": "p.Ala525fs",
"transcript": "XM_047431314.1",
"protein_id": "XP_047287270.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 715,
"cds_start": 1569,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431314.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1902_1903delAG",
"hgvs_p": "p.Ala636fs",
"transcript": "XM_047431315.1",
"protein_id": "XP_047287271.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 685,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431315.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1443_1444delAG",
"hgvs_p": "p.Ala483fs",
"transcript": "XM_047431316.1",
"protein_id": "XP_047287272.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 673,
"cds_start": 1443,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431316.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1404_1405delAG",
"hgvs_p": "p.Ala470fs",
"transcript": "XM_011536677.4",
"protein_id": "XP_011534979.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 660,
"cds_start": 1404,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536677.4"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1305_1306delAG",
"hgvs_p": "p.Ala437fs",
"transcript": "XM_047431317.1",
"protein_id": "XP_047287273.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 627,
"cds_start": 1305,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431317.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1404_1405delAG",
"hgvs_p": "p.Ala470fs",
"transcript": "XM_047431318.1",
"protein_id": "XP_047287274.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 597,
"cds_start": 1404,
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{
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},
{
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{
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{
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],
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{
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],
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"gene_symbol": "POMT2",
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"transcript": "ENST00000682925.1",
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"feature": "ENST00000682925.1"
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],
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"dbsnp": "rs1555351849",
"frequency_reference_population": 0.0000047890426,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000478904,
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"gnomad_exomes_ac": 7,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.513,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_013382.7",
"gene_symbol": "POMT2",
"hgnc_id": 19743,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1863_1864delAG",
"hgvs_p": "p.Ala623fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}