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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: 7-17821635-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=17821635&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 17821635,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001350862.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1719T>A",
"hgvs_p": "p.Asp573Glu",
"transcript": "NM_015132.5",
"protein_id": "NP_055947.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 957,
"cds_start": 1719,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000428135.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015132.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1719T>A",
"hgvs_p": "p.Asp573Glu",
"transcript": "ENST00000428135.7",
"protein_id": "ENSP00000398789.2",
"transcript_support_level": 1,
"aa_start": 573,
"aa_end": null,
"aa_length": 957,
"cds_start": 1719,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015132.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428135.7"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1752T>A",
"hgvs_p": "p.Asp584Glu",
"transcript": "ENST00000611725.4",
"protein_id": "ENSP00000479044.1",
"transcript_support_level": 1,
"aa_start": 584,
"aa_end": null,
"aa_length": 888,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611725.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "n.63T>A",
"hgvs_p": null,
"transcript": "ENST00000496855.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000496855.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1752T>A",
"hgvs_p": "p.Asp584Glu",
"transcript": "NM_001350862.2",
"protein_id": "NP_001337791.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 968,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350862.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1752T>A",
"hgvs_p": "p.Asp584Glu",
"transcript": "ENST00000862559.1",
"protein_id": "ENSP00000532618.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 968,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862559.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1713T>A",
"hgvs_p": "p.Asp571Glu",
"transcript": "ENST00000959595.1",
"protein_id": "ENSP00000629654.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 955,
"cds_start": 1713,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959595.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1680T>A",
"hgvs_p": "p.Asp560Glu",
"transcript": "ENST00000862561.1",
"protein_id": "ENSP00000532620.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 944,
"cds_start": 1680,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862561.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1650T>A",
"hgvs_p": "p.Asp550Glu",
"transcript": "ENST00000959598.1",
"protein_id": "ENSP00000629657.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 934,
"cds_start": 1650,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959598.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1647T>A",
"hgvs_p": "p.Asp549Glu",
"transcript": "ENST00000959596.1",
"protein_id": "ENSP00000629655.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 933,
"cds_start": 1647,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959596.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1752T>A",
"hgvs_p": "p.Asp584Glu",
"transcript": "ENST00000959599.1",
"protein_id": "ENSP00000629658.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 932,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959599.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1617T>A",
"hgvs_p": "p.Asp539Glu",
"transcript": "ENST00000862563.1",
"protein_id": "ENSP00000532622.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 923,
"cds_start": 1617,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862563.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1614T>A",
"hgvs_p": "p.Asp538Glu",
"transcript": "ENST00000862564.1",
"protein_id": "ENSP00000532623.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 922,
"cds_start": 1614,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862564.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1719T>A",
"hgvs_p": "p.Asp573Glu",
"transcript": "ENST00000939179.1",
"protein_id": "ENSP00000609238.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 921,
"cds_start": 1719,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939179.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1752T>A",
"hgvs_p": "p.Asp584Glu",
"transcript": "ENST00000862560.1",
"protein_id": "ENSP00000532619.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 914,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862560.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1563T>A",
"hgvs_p": "p.Asp521Glu",
"transcript": "ENST00000959597.1",
"protein_id": "ENSP00000629656.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 905,
"cds_start": 1563,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959597.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1719T>A",
"hgvs_p": "p.Asp573Glu",
"transcript": "ENST00000862562.1",
"protein_id": "ENSP00000532621.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 903,
"cds_start": 1719,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862562.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1479T>A",
"hgvs_p": "p.Asp493Glu",
"transcript": "NM_001350863.2",
"protein_id": "NP_001337792.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 877,
"cds_start": 1479,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350863.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1413T>A",
"hgvs_p": "p.Asp471Glu",
"transcript": "NM_001350864.2",
"protein_id": "NP_001337793.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 855,
"cds_start": 1413,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350864.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1110T>A",
"hgvs_p": "p.Asp370Glu",
"transcript": "NM_001350866.2",
"protein_id": "NP_001337795.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 754,
"cds_start": 1110,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350866.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1110T>A",
"hgvs_p": "p.Asp370Glu",
"transcript": "NM_001350867.2",
"protein_id": "NP_001337796.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 754,
"cds_start": 1110,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350867.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.894T>A",
"hgvs_p": "p.Asp298Glu",
"transcript": "ENST00000959594.1",
"protein_id": "ENSP00000629653.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 682,
"cds_start": 894,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"computational_score_selected": 0.12358161807060242,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.075,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": -6,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -6,
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"pathogenic_score": 0,
"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001350862.2",
"gene_symbol": "SNX13",
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"effects": [
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],
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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
}