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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: 12-55698502-T-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=55698502&ref=T&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 55698502,
"ref": "T",
"alt": "TA",
"effect": "frameshift_variant",
"transcript": "NM_001410977.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1072dupT",
"hgvs_p": "p.Tyr358fs",
"transcript": "NM_002206.3",
"protein_id": "NP_002197.2",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1137,
"cds_start": 1072,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000257879.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002206.3"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1072dupT",
"hgvs_p": "p.Tyr358fs",
"transcript": "ENST00000257879.11",
"protein_id": "ENSP00000257879.7",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 1137,
"cds_start": 1072,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002206.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257879.11"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1084dupT",
"hgvs_p": "p.Tyr362fs",
"transcript": "ENST00000553804.6",
"protein_id": "ENSP00000452120.1",
"transcript_support_level": 1,
"aa_start": 362,
"aa_end": null,
"aa_length": 1141,
"cds_start": 1084,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553804.6"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1204dupT",
"hgvs_p": "p.Tyr402fs",
"transcript": "NM_001410977.1",
"protein_id": "NP_001397906.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 1181,
"cds_start": 1204,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410977.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1204dupT",
"hgvs_p": "p.Tyr402fs",
"transcript": "ENST00000555728.5",
"protein_id": "ENSP00000452387.1",
"transcript_support_level": 5,
"aa_start": 402,
"aa_end": null,
"aa_length": 1181,
"cds_start": 1204,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555728.5"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1204dupT",
"hgvs_p": "p.Tyr402fs",
"transcript": "ENST00000888141.1",
"protein_id": "ENSP00000558199.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 1175,
"cds_start": 1204,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888141.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1171dupT",
"hgvs_p": "p.Tyr391fs",
"transcript": "ENST00000888137.1",
"protein_id": "ENSP00000558196.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 1170,
"cds_start": 1171,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888137.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1084dupT",
"hgvs_p": "p.Tyr362fs",
"transcript": "ENST00000888151.1",
"protein_id": "ENSP00000558210.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1148,
"cds_start": 1084,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888151.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1084dupT",
"hgvs_p": "p.Tyr362fs",
"transcript": "NM_001144996.2",
"protein_id": "NP_001138468.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1141,
"cds_start": 1084,
"cds_end": null,
"cds_length": 3426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144996.2"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1084dupT",
"hgvs_p": "p.Tyr362fs",
"transcript": "ENST00000888150.1",
"protein_id": "ENSP00000558209.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1140,
"cds_start": 1084,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888150.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1072dupT",
"hgvs_p": "p.Tyr358fs",
"transcript": "ENST00000945417.1",
"protein_id": "ENSP00000615476.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1136,
"cds_start": 1072,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945417.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1084dupT",
"hgvs_p": "p.Tyr362fs",
"transcript": "NM_001414029.1",
"protein_id": "NP_001400958.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1135,
"cds_start": 1084,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414029.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1084dupT",
"hgvs_p": "p.Tyr362fs",
"transcript": "ENST00000888129.1",
"protein_id": "ENSP00000558189.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 1135,
"cds_start": 1084,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888129.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1060dupT",
"hgvs_p": "p.Tyr354fs",
"transcript": "ENST00000888135.1",
"protein_id": "ENSP00000558193.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 1133,
"cds_start": 1060,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888135.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1072dupT",
"hgvs_p": "p.Tyr358fs",
"transcript": "NM_001374465.1",
"protein_id": "NP_001361394.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1131,
"cds_start": 1072,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374465.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1072dupT",
"hgvs_p": "p.Tyr358fs",
"transcript": "ENST00000347027.10",
"protein_id": "ENSP00000343009.6",
"transcript_support_level": 5,
"aa_start": 358,
"aa_end": null,
"aa_length": 1131,
"cds_start": 1072,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347027.10"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1072dupT",
"hgvs_p": "p.Tyr358fs",
"transcript": "ENST00000888145.1",
"protein_id": "ENSP00000558204.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1130,
"cds_start": 1072,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888145.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1048dupT",
"hgvs_p": "p.Tyr350fs",
"transcript": "ENST00000945420.1",
"protein_id": "ENSP00000615479.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 1129,
"cds_start": 1048,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945420.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1045dupT",
"hgvs_p": "p.Tyr349fs",
"transcript": "ENST00000945415.1",
"protein_id": "ENSP00000615474.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 1128,
"cds_start": 1045,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945415.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1042dupT",
"hgvs_p": "p.Tyr348fs",
"transcript": "ENST00000912204.1",
"protein_id": "ENSP00000582263.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 1127,
"cds_start": 1042,
"cds_end": null,
"cds_length": 3384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912204.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1039dupT",
"hgvs_p": "p.Tyr347fs",
"transcript": "ENST00000888152.1",
"protein_id": "ENSP00000558211.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 1126,
"cds_start": 1039,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888152.1"
},
{
"aa_ref": "Y",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA7",
"gene_hgnc_id": 6143,
"hgvs_c": "c.1084dupT",
"hgvs_p": "p.Tyr362fs",
"transcript": "ENST00000557555.3",
"protein_id": "ENSP00000451039.3",
"transcript_support_level": 5,
"aa_start": 362,
"aa_end": null,
"aa_length": 1122,
"cds_start": 1084,
"cds_end": null,
"cds_length": 3369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"computational_score_selected": null,
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"computational_source_selected": null,
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.268,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
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"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
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"verdict": "Pathogenic",
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"effects": [
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"inheritance_mode": "AR,AD",
"hgvs_c": "c.1204dupT",
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],
"clinvar_disease": "Congenital muscular dystrophy due to integrin alpha-7 deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Congenital muscular dystrophy due to integrin alpha-7 deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}