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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: 5-168244457-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=168244457&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 168244457,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001395460.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.5558G>A",
"hgvs_p": "p.Arg1853Gln",
"transcript": "NM_001395460.1",
"protein_id": "NP_001382389.1",
"transcript_support_level": null,
"aa_start": 1853,
"aa_end": null,
"aa_length": 2774,
"cds_start": 5558,
"cds_end": null,
"cds_length": 8325,
"cdna_start": 6242,
"cdna_end": null,
"cdna_length": 10356,
"mane_select": "ENST00000518659.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395460.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.5558G>A",
"hgvs_p": "p.Arg1853Gln",
"transcript": "ENST00000518659.6",
"protein_id": "ENSP00000429430.1",
"transcript_support_level": 5,
"aa_start": 1853,
"aa_end": null,
"aa_length": 2774,
"cds_start": 5558,
"cds_end": null,
"cds_length": 8325,
"cdna_start": 6242,
"cdna_end": null,
"cdna_length": 10356,
"mane_select": "NM_001395460.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518659.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.4841G>A",
"hgvs_p": "p.Arg1614Gln",
"transcript": "ENST00000520394.5",
"protein_id": "ENSP00000427874.1",
"transcript_support_level": 1,
"aa_start": 1614,
"aa_end": null,
"aa_length": 2535,
"cds_start": 4841,
"cds_end": null,
"cds_length": 7608,
"cdna_start": 4892,
"cdna_end": null,
"cdna_length": 8034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520394.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.5531G>A",
"hgvs_p": "p.Arg1844Gln",
"transcript": "NM_001122679.2",
"protein_id": "NP_001116151.1",
"transcript_support_level": null,
"aa_start": 1844,
"aa_end": null,
"aa_length": 2765,
"cds_start": 5531,
"cds_end": null,
"cds_length": 8298,
"cdna_start": 5720,
"cdna_end": null,
"cdna_length": 9834,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122679.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.5195G>A",
"hgvs_p": "p.Arg1732Gln",
"transcript": "ENST00000519204.5",
"protein_id": "ENSP00000428964.1",
"transcript_support_level": 5,
"aa_start": 1732,
"aa_end": null,
"aa_length": 2653,
"cds_start": 5195,
"cds_end": null,
"cds_length": 7962,
"cdna_start": 5313,
"cdna_end": null,
"cdna_length": 9427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519204.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.5081G>A",
"hgvs_p": "p.Arg1694Gln",
"transcript": "NM_001368145.1",
"protein_id": "NP_001355074.1",
"transcript_support_level": null,
"aa_start": 1694,
"aa_end": null,
"aa_length": 2615,
"cds_start": 5081,
"cds_end": null,
"cds_length": 7848,
"cdna_start": 5403,
"cdna_end": null,
"cdna_length": 9517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368145.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.5075G>A",
"hgvs_p": "p.Arg1692Gln",
"transcript": "NM_001368146.1",
"protein_id": "NP_001355075.1",
"transcript_support_level": null,
"aa_start": 1692,
"aa_end": null,
"aa_length": 2613,
"cds_start": 5075,
"cds_end": null,
"cds_length": 7842,
"cdna_start": 5397,
"cdna_end": null,
"cdna_length": 9511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368146.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.5075G>A",
"hgvs_p": "p.Arg1692Gln",
"transcript": "ENST00000695886.1",
"protein_id": "ENSP00000512239.1",
"transcript_support_level": null,
"aa_start": 1692,
"aa_end": null,
"aa_length": 2613,
"cds_start": 5075,
"cds_end": null,
"cds_length": 7842,
"cdna_start": 5397,
"cdna_end": null,
"cdna_length": 9500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695886.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.4967G>A",
"hgvs_p": "p.Arg1656Gln",
"transcript": "ENST00000695961.1",
"protein_id": "ENSP00000512289.1",
"transcript_support_level": null,
"aa_start": 1656,
"aa_end": null,
"aa_length": 2577,
"cds_start": 4967,
"cds_end": null,
"cds_length": 7734,
"cdna_start": 6619,
"cdna_end": null,
"cdna_length": 10354,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695961.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.4841G>A",
"hgvs_p": "p.Arg1614Gln",
"transcript": "NM_001080428.3",
"protein_id": "NP_001073897.2",
"transcript_support_level": null,
"aa_start": 1614,
"aa_end": null,
"aa_length": 2535,
"cds_start": 4841,
"cds_end": null,
"cds_length": 7608,
"cdna_start": 4966,
"cdna_end": null,
"cdna_length": 9080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080428.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.4343G>A",
"hgvs_p": "p.Arg1448Gln",
"transcript": "ENST00000695962.1",
"protein_id": "ENSP00000512290.1",
"transcript_support_level": null,
"aa_start": 1448,
"aa_end": null,
"aa_length": 2369,
"cds_start": 4343,
"cds_end": null,
"cds_length": 7110,
"cdna_start": 5159,
"cdna_end": null,
"cdna_length": 9271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695962.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.5537G>A",
"hgvs_p": "p.Arg1846Gln",
"transcript": "XM_017009661.2",
"protein_id": "XP_016865150.1",
"transcript_support_level": null,
"aa_start": 1846,
"aa_end": null,
"aa_length": 2767,
"cds_start": 5537,
"cds_end": null,
"cds_length": 8304,
"cdna_start": 6221,
"cdna_end": null,
"cdna_length": 10335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009661.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.5531G>A",
"hgvs_p": "p.Arg1844Gln",
"transcript": "XM_005265950.3",
"protein_id": "XP_005266007.1",
"transcript_support_level": null,
"aa_start": 1844,
"aa_end": null,
"aa_length": 2765,
"cds_start": 5531,
"cds_end": null,
"cds_length": 8298,
"cdna_start": 6215,
"cdna_end": null,
"cdna_length": 10329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265950.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.5510G>A",
"hgvs_p": "p.Arg1837Gln",
"transcript": "XM_047417418.1",
"protein_id": "XP_047273374.1",
"transcript_support_level": null,
"aa_start": 1837,
"aa_end": null,
"aa_length": 2758,
"cds_start": 5510,
"cds_end": null,
"cds_length": 8277,
"cdna_start": 6274,
"cdna_end": null,
"cdna_length": 10388,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417418.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.5348G>A",
"hgvs_p": "p.Arg1783Gln",
"transcript": "XM_017009662.2",
"protein_id": "XP_016865151.1",
"transcript_support_level": null,
"aa_start": 1783,
"aa_end": null,
"aa_length": 2704,
"cds_start": 5348,
"cds_end": null,
"cds_length": 8115,
"cdna_start": 6032,
"cdna_end": null,
"cdna_length": 10146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009662.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.5345G>A",
"hgvs_p": "p.Arg1782Gln",
"transcript": "XM_011534604.3",
"protein_id": "XP_011532906.1",
"transcript_support_level": null,
"aa_start": 1782,
"aa_end": null,
"aa_length": 2703,
"cds_start": 5345,
"cds_end": null,
"cds_length": 8112,
"cdna_start": 6029,
"cdna_end": null,
"cdna_length": 10143,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534604.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.5333G>A",
"hgvs_p": "p.Arg1778Gln",
"transcript": "XM_017009663.3",
"protein_id": "XP_016865152.1",
"transcript_support_level": null,
"aa_start": 1778,
"aa_end": null,
"aa_length": 2699,
"cds_start": 5333,
"cds_end": null,
"cds_length": 8100,
"cdna_start": 5339,
"cdna_end": null,
"cdna_length": 9453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009663.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.5327G>A",
"hgvs_p": "p.Arg1776Gln",
"transcript": "XM_047417419.1",
"protein_id": "XP_047273375.1",
"transcript_support_level": null,
"aa_start": 1776,
"aa_end": null,
"aa_length": 2697,
"cds_start": 5327,
"cds_end": null,
"cds_length": 8094,
"cdna_start": 6011,
"cdna_end": null,
"cdna_length": 10125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417419.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.5324G>A",
"hgvs_p": "p.Arg1775Gln",
"transcript": "XM_047417420.1",
"protein_id": "XP_047273376.1",
"transcript_support_level": null,
"aa_start": 1775,
"aa_end": null,
"aa_length": 2696,
"cds_start": 5324,
"cds_end": null,
"cds_length": 8091,
"cdna_start": 6008,
"cdna_end": null,
"cdna_length": 10122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417420.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.5312G>A",
"hgvs_p": "p.Arg1771Gln",
"transcript": "XM_047417421.1",
"protein_id": "XP_047273377.1",
"transcript_support_level": null,
"aa_start": 1771,
"aa_end": null,
"aa_length": 2692,
"cds_start": 5312,
"cds_end": null,
"cds_length": 8079,
"cdna_start": 5318,
"cdna_end": null,
"cdna_length": 9432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417421.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.5306G>A",
"hgvs_p": "p.Arg1769Gln",
"transcript": "XM_047417422.1",
"protein_id": "XP_047273378.1",
"transcript_support_level": null,
"aa_start": 1769,
"aa_end": null,
"aa_length": 2690,
"cds_start": 5306,
"cds_end": null,
"cds_length": 8073,
"cdna_start": 5312,
"cdna_end": null,
"cdna_length": 9426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417422.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.5285G>A",
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"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.588,
"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001395460.1",
"gene_symbol": "TENM2",
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"effects": [
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"inheritance_mode": "AD",
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{
"score": 2,
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"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "ENST00000519795.2",
"gene_symbol": "TENM2-AS1",
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"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}