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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: 2-177461948-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=177461948&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 177461948,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000264167.11",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.926C>A",
"hgvs_p": "p.Thr309Asn",
"transcript": "NM_003659.4",
"protein_id": "NP_003650.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 658,
"cds_start": 926,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 7633,
"mane_select": "ENST00000264167.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.926C>A",
"hgvs_p": "p.Thr309Asn",
"transcript": "ENST00000264167.11",
"protein_id": "ENSP00000264167.4",
"transcript_support_level": 1,
"aa_start": 309,
"aa_end": null,
"aa_length": 658,
"cds_start": 926,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 7633,
"mane_select": "NM_003659.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.926C>A",
"hgvs_p": "p.Thr309Asn",
"transcript": "ENST00000642466.2",
"protein_id": "ENSP00000494433.2",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 676,
"cds_start": 926,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.926C>A",
"hgvs_p": "p.Thr309Asn",
"transcript": "ENST00000679459.1",
"protein_id": "ENSP00000506137.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 638,
"cds_start": 926,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.926C>A",
"hgvs_p": "p.Thr309Asn",
"transcript": "ENST00000637633.2",
"protein_id": "ENSP00000490844.2",
"transcript_support_level": 5,
"aa_start": 309,
"aa_end": null,
"aa_length": 629,
"cds_start": 926,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.926C>A",
"hgvs_p": "p.Thr309Asn",
"transcript": "ENST00000680770.1",
"protein_id": "ENSP00000505536.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 624,
"cds_start": 926,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.656C>A",
"hgvs_p": "p.Thr219Asn",
"transcript": "ENST00000679478.1",
"protein_id": "ENSP00000506484.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 568,
"cds_start": 656,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 7466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.656C>A",
"hgvs_p": "p.Thr219Asn",
"transcript": "ENST00000679994.1",
"protein_id": "ENSP00000504957.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 568,
"cds_start": 656,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 7617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.656C>A",
"hgvs_p": "p.Thr219Asn",
"transcript": "ENST00000680155.1",
"protein_id": "ENSP00000505333.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 568,
"cds_start": 656,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 7318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.656C>A",
"hgvs_p": "p.Thr219Asn",
"transcript": "ENST00000681449.1",
"protein_id": "ENSP00000505342.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 568,
"cds_start": 656,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.656C>A",
"hgvs_p": "p.Thr219Asn",
"transcript": "XM_011512041.3",
"protein_id": "XP_011510343.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 568,
"cds_start": 656,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 7426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.656C>A",
"hgvs_p": "p.Thr219Asn",
"transcript": "XM_047446104.1",
"protein_id": "XP_047302060.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 568,
"cds_start": 656,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 7461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.926C>A",
"hgvs_p": "p.Thr309Asn",
"transcript": "XM_047446105.1",
"protein_id": "XP_047302061.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 336,
"cds_start": 926,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 1069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.2338C>A",
"hgvs_p": null,
"transcript": "ENST00000460342.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2742,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.2155C>A",
"hgvs_p": null,
"transcript": "ENST00000679421.1",
"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,
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"cdna_length": 8603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.729C>A",
"hgvs_p": null,
"transcript": "ENST00000679639.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.2290C>A",
"hgvs_p": null,
"transcript": "ENST00000680028.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.970C>A",
"hgvs_p": null,
"transcript": "ENST00000680705.1",
"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": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.*174C>A",
"hgvs_p": null,
"transcript": "ENST00000680893.1",
"protein_id": "ENSP00000505929.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.956C>A",
"hgvs_p": null,
"transcript": "ENST00000680910.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.656C>A",
"hgvs_p": null,
"transcript": "ENST00000681028.1",
"protein_id": "ENSP00000506323.1",
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"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.*304C>A",
"hgvs_p": null,
"transcript": "ENST00000681032.1",
"protein_id": "ENSP00000505205.1",
"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": 7520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.926C>A",
"hgvs_p": null,
"transcript": "ENST00000681565.1",
"protein_id": "ENSP00000505620.1",
"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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"revel_score": 0.8,
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"alphamissense_prediction": "Pathogenic",
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"bayesdelnoaf_prediction": "Uncertain_significance",
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{
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"PP3_Strong"
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"verdict": "Likely_pathogenic",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}