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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: 5-168244493-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=168244493&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 168244493,
"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.5594G>A",
"hgvs_p": "p.Arg1865Gln",
"transcript": "NM_001395460.1",
"protein_id": "NP_001382389.1",
"transcript_support_level": null,
"aa_start": 1865,
"aa_end": null,
"aa_length": 2774,
"cds_start": 5594,
"cds_end": null,
"cds_length": 8325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.5594G>A",
"hgvs_p": "p.Arg1865Gln",
"transcript": "ENST00000518659.6",
"protein_id": "ENSP00000429430.1",
"transcript_support_level": 5,
"aa_start": 1865,
"aa_end": null,
"aa_length": 2774,
"cds_start": 5594,
"cds_end": null,
"cds_length": 8325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.4877G>A",
"hgvs_p": "p.Arg1626Gln",
"transcript": "ENST00000520394.5",
"protein_id": "ENSP00000427874.1",
"transcript_support_level": 1,
"aa_start": 1626,
"aa_end": null,
"aa_length": 2535,
"cds_start": 4877,
"cds_end": null,
"cds_length": 7608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.5567G>A",
"hgvs_p": "p.Arg1856Gln",
"transcript": "NM_001122679.2",
"protein_id": "NP_001116151.1",
"transcript_support_level": null,
"aa_start": 1856,
"aa_end": null,
"aa_length": 2765,
"cds_start": 5567,
"cds_end": null,
"cds_length": 8298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.5231G>A",
"hgvs_p": "p.Arg1744Gln",
"transcript": "ENST00000519204.5",
"protein_id": "ENSP00000428964.1",
"transcript_support_level": 5,
"aa_start": 1744,
"aa_end": null,
"aa_length": 2653,
"cds_start": 5231,
"cds_end": null,
"cds_length": 7962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.5117G>A",
"hgvs_p": "p.Arg1706Gln",
"transcript": "NM_001368145.1",
"protein_id": "NP_001355074.1",
"transcript_support_level": null,
"aa_start": 1706,
"aa_end": null,
"aa_length": 2615,
"cds_start": 5117,
"cds_end": null,
"cds_length": 7848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.5111G>A",
"hgvs_p": "p.Arg1704Gln",
"transcript": "NM_001368146.1",
"protein_id": "NP_001355075.1",
"transcript_support_level": null,
"aa_start": 1704,
"aa_end": null,
"aa_length": 2613,
"cds_start": 5111,
"cds_end": null,
"cds_length": 7842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.5111G>A",
"hgvs_p": "p.Arg1704Gln",
"transcript": "ENST00000695886.1",
"protein_id": "ENSP00000512239.1",
"transcript_support_level": null,
"aa_start": 1704,
"aa_end": null,
"aa_length": 2613,
"cds_start": 5111,
"cds_end": null,
"cds_length": 7842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.5003G>A",
"hgvs_p": "p.Arg1668Gln",
"transcript": "ENST00000695961.1",
"protein_id": "ENSP00000512289.1",
"transcript_support_level": null,
"aa_start": 1668,
"aa_end": null,
"aa_length": 2577,
"cds_start": 5003,
"cds_end": null,
"cds_length": 7734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.4877G>A",
"hgvs_p": "p.Arg1626Gln",
"transcript": "NM_001080428.3",
"protein_id": "NP_001073897.2",
"transcript_support_level": null,
"aa_start": 1626,
"aa_end": null,
"aa_length": 2535,
"cds_start": 4877,
"cds_end": null,
"cds_length": 7608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.4379G>A",
"hgvs_p": "p.Arg1460Gln",
"transcript": "ENST00000695962.1",
"protein_id": "ENSP00000512290.1",
"transcript_support_level": null,
"aa_start": 1460,
"aa_end": null,
"aa_length": 2369,
"cds_start": 4379,
"cds_end": null,
"cds_length": 7110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.5573G>A",
"hgvs_p": "p.Arg1858Gln",
"transcript": "XM_017009661.2",
"protein_id": "XP_016865150.1",
"transcript_support_level": null,
"aa_start": 1858,
"aa_end": null,
"aa_length": 2767,
"cds_start": 5573,
"cds_end": null,
"cds_length": 8304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.5567G>A",
"hgvs_p": "p.Arg1856Gln",
"transcript": "XM_005265950.3",
"protein_id": "XP_005266007.1",
"transcript_support_level": null,
"aa_start": 1856,
"aa_end": null,
"aa_length": 2765,
"cds_start": 5567,
"cds_end": null,
"cds_length": 8298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.5546G>A",
"hgvs_p": "p.Arg1849Gln",
"transcript": "XM_047417418.1",
"protein_id": "XP_047273374.1",
"transcript_support_level": null,
"aa_start": 1849,
"aa_end": null,
"aa_length": 2758,
"cds_start": 5546,
"cds_end": null,
"cds_length": 8277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.5384G>A",
"hgvs_p": "p.Arg1795Gln",
"transcript": "XM_017009662.2",
"protein_id": "XP_016865151.1",
"transcript_support_level": null,
"aa_start": 1795,
"aa_end": null,
"aa_length": 2704,
"cds_start": 5384,
"cds_end": null,
"cds_length": 8115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.5381G>A",
"hgvs_p": "p.Arg1794Gln",
"transcript": "XM_011534604.3",
"protein_id": "XP_011532906.1",
"transcript_support_level": null,
"aa_start": 1794,
"aa_end": null,
"aa_length": 2703,
"cds_start": 5381,
"cds_end": null,
"cds_length": 8112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.5369G>A",
"hgvs_p": "p.Arg1790Gln",
"transcript": "XM_017009663.3",
"protein_id": "XP_016865152.1",
"transcript_support_level": null,
"aa_start": 1790,
"aa_end": null,
"aa_length": 2699,
"cds_start": 5369,
"cds_end": null,
"cds_length": 8100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.5363G>A",
"hgvs_p": "p.Arg1788Gln",
"transcript": "XM_047417419.1",
"protein_id": "XP_047273375.1",
"transcript_support_level": null,
"aa_start": 1788,
"aa_end": null,
"aa_length": 2697,
"cds_start": 5363,
"cds_end": null,
"cds_length": 8094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.5360G>A",
"hgvs_p": "p.Arg1787Gln",
"transcript": "XM_047417420.1",
"protein_id": "XP_047273376.1",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2696,
"cds_start": 5360,
"cds_end": null,
"cds_length": 8091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.5348G>A",
"hgvs_p": "p.Arg1783Gln",
"transcript": "XM_047417421.1",
"protein_id": "XP_047273377.1",
"transcript_support_level": null,
"aa_start": 1783,
"aa_end": null,
"aa_length": 2692,
"cds_start": 5348,
"cds_end": null,
"cds_length": 8079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.5342G>A",
"hgvs_p": "p.Arg1781Gln",
"transcript": "XM_047417422.1",
"protein_id": "XP_047273378.1",
"transcript_support_level": null,
"aa_start": 1781,
"aa_end": null,
"aa_length": 2690,
"cds_start": 5342,
"cds_end": null,
"cds_length": 8073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.5321G>A",
"hgvs_p": "p.Arg1774Gln",
"transcript": "XM_047417423.1",
"protein_id": "XP_047273379.1",
"transcript_support_level": null,
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],
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8499576449394226,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.695,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7444,
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"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001395460.1",
"gene_symbol": "TENM2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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{
"score": 4,
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"criteria": [
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"PP3_Moderate"
],
"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
}