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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: 10-121498522-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=121498522&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 121498522,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000457416.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1645A>G",
"hgvs_p": "p.Asn549Asp",
"transcript": "NM_000141.5",
"protein_id": "NP_000132.3",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 821,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2278,
"cdna_end": null,
"cdna_length": 4624,
"mane_select": "ENST00000358487.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1645A>G",
"hgvs_p": "p.Asn549Asp",
"transcript": "ENST00000358487.10",
"protein_id": "ENSP00000351276.6",
"transcript_support_level": 1,
"aa_start": 549,
"aa_end": null,
"aa_length": 821,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2278,
"cdna_end": null,
"cdna_length": 4624,
"mane_select": "NM_000141.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1648A>G",
"hgvs_p": "p.Asn550Asp",
"transcript": "ENST00000457416.7",
"protein_id": "ENSP00000410294.2",
"transcript_support_level": 1,
"aa_start": 550,
"aa_end": null,
"aa_length": 822,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2281,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1648A>G",
"hgvs_p": "p.Asn550Asp",
"transcript": "ENST00000369056.5",
"protein_id": "ENSP00000358052.1",
"transcript_support_level": 1,
"aa_start": 550,
"aa_end": null,
"aa_length": 769,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1672,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1648A>G",
"hgvs_p": "p.Asn550Asp",
"transcript": "ENST00000369058.7",
"protein_id": "ENSP00000358054.3",
"transcript_support_level": 1,
"aa_start": 550,
"aa_end": null,
"aa_length": 767,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1378A>G",
"hgvs_p": "p.Asn460Asp",
"transcript": "ENST00000613048.4",
"protein_id": "ENSP00000484154.1",
"transcript_support_level": 5,
"aa_start": 460,
"aa_end": null,
"aa_length": 732,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 4369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1309A>G",
"hgvs_p": "p.Asn437Asp",
"transcript": "ENST00000369061.8",
"protein_id": "ENSP00000358057.4",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 709,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1459,
"cdna_end": null,
"cdna_length": 3803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1303A>G",
"hgvs_p": "p.Asn435Asp",
"transcript": "ENST00000369059.5",
"protein_id": "ENSP00000358055.1",
"transcript_support_level": 5,
"aa_start": 435,
"aa_end": null,
"aa_length": 707,
"cds_start": 1303,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1944,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1297A>G",
"hgvs_p": "p.Asn433Asp",
"transcript": "ENST00000369060.8",
"protein_id": "ENSP00000358056.4",
"transcript_support_level": 1,
"aa_start": 433,
"aa_end": null,
"aa_length": 705,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1294A>G",
"hgvs_p": "p.Asn432Asp",
"transcript": "ENST00000356226.8",
"protein_id": "ENSP00000348559.4",
"transcript_support_level": 1,
"aa_start": 432,
"aa_end": null,
"aa_length": 704,
"cds_start": 1294,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1941,
"cdna_end": null,
"cdna_length": 3547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1381A>G",
"hgvs_p": "p.Asn461Asp",
"transcript": "ENST00000360144.7",
"protein_id": "ENSP00000353262.3",
"transcript_support_level": 2,
"aa_start": 461,
"aa_end": null,
"aa_length": 680,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.961A>G",
"hgvs_p": "p.Asn321Asp",
"transcript": "ENST00000478859.5",
"protein_id": "ENSP00000474011.1",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 593,
"cds_start": 961,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1676,
"cdna_end": null,
"cdna_length": 3990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.421A>G",
"hgvs_p": "p.Asn141Asp",
"transcript": "ENST00000429361.5",
"protein_id": "ENSP00000404219.1",
"transcript_support_level": 5,
"aa_start": 141,
"aa_end": null,
"aa_length": 371,
"cds_start": 421,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 1138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "n.*692A>G",
"hgvs_p": null,
"transcript": "ENST00000604236.5",
"protein_id": "ENSP00000474109.1",
"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": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "n.*692A>G",
"hgvs_p": null,
"transcript": "ENST00000604236.5",
"protein_id": "ENSP00000474109.1",
"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": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1648A>G",
"hgvs_p": "p.Asn550Asp",
"transcript": "NM_022970.4",
"protein_id": "NP_075259.4",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 822,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2281,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1642A>G",
"hgvs_p": "p.Asn548Asp",
"transcript": "NM_001441087.1",
"protein_id": "NP_001428016.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 820,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2275,
"cdna_end": null,
"cdna_length": 4621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1639A>G",
"hgvs_p": "p.Asn547Asp",
"transcript": "NM_001320658.2",
"protein_id": "NP_001307587.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 819,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 2272,
"cdna_end": null,
"cdna_length": 4618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1639A>G",
"hgvs_p": "p.Asn547Asp",
"transcript": "ENST00000346997.6",
"protein_id": "ENSP00000263451.5",
"transcript_support_level": 5,
"aa_start": 547,
"aa_end": null,
"aa_length": 819,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1639A>G",
"hgvs_p": "p.Asn547Asp",
"transcript": "ENST00000351936.11",
"protein_id": "ENSP00000309878.10",
"transcript_support_level": 5,
"aa_start": 547,
"aa_end": null,
"aa_length": 819,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 2430,
"cdna_end": null,
"cdna_length": 4761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1639A>G",
"hgvs_p": "p.Asn547Asp",
"transcript": "ENST00000683211.1",
"protein_id": "ENSP00000508257.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 819,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 4633,
"cdna_end": null,
"cdna_length": 6964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1648A>G",
"hgvs_p": "p.Asn550Asp",
"transcript": "NM_001144913.1",
"protein_id": "NP_001138385.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 769,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1798,
"cdna_end": null,
"cdna_length": 2781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR2",
"gene_hgnc_id": 3689,
"hgvs_c": "c.1378A>G",
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}
],
"gene_symbol": "FGFR2",
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"computational_score_selected": 0.9740568399429321,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.84,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9359,
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"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.011,
"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 9,
"acmg_classification": "Likely_pathogenic",
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"acmg_by_gene": [
{
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"criteria": [
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"PM5",
"PP2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000457416.7",
"gene_symbol": "FGFR2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}