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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: 6-13307726-TA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=13307726&ref=TA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 13307726,
"ref": "TA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_016495.6",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7",
"gene_hgnc_id": 21066,
"hgvs_c": "c.538delT",
"hgvs_p": "p.Tyr180fs",
"transcript": "NM_016495.6",
"protein_id": "NP_057579.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 293,
"cds_start": 538,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379300.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016495.6"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7",
"gene_hgnc_id": 21066,
"hgvs_c": "c.538delT",
"hgvs_p": "p.Tyr180fs",
"transcript": "ENST00000379300.8",
"protein_id": "ENSP00000368602.3",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 293,
"cds_start": 538,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016495.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379300.8"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7",
"gene_hgnc_id": 21066,
"hgvs_c": "c.538delT",
"hgvs_p": "p.Tyr180fs",
"transcript": "ENST00000356436.8",
"protein_id": "ENSP00000348813.4",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 293,
"cds_start": 538,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356436.8"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7",
"gene_hgnc_id": 21066,
"hgvs_c": "c.457delT",
"hgvs_p": "p.Tyr153fs",
"transcript": "ENST00000379307.6",
"protein_id": "ENSP00000368609.2",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 266,
"cds_start": 457,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379307.6"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7",
"gene_hgnc_id": 21066,
"hgvs_c": "c.400delT",
"hgvs_p": "p.Tyr134fs",
"transcript": "ENST00000343141.8",
"protein_id": "ENSP00000343100.4",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 247,
"cds_start": 400,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343141.8"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7",
"gene_hgnc_id": 21066,
"hgvs_c": "c.538delT",
"hgvs_p": "p.Tyr180fs",
"transcript": "NM_001143964.4",
"protein_id": "NP_001137436.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 293,
"cds_start": 538,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143964.4"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7",
"gene_hgnc_id": 21066,
"hgvs_c": "c.538delT",
"hgvs_p": "p.Tyr180fs",
"transcript": "NM_001143965.4",
"protein_id": "NP_001137437.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 293,
"cds_start": 538,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143965.4"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7",
"gene_hgnc_id": 21066,
"hgvs_c": "c.538delT",
"hgvs_p": "p.Tyr180fs",
"transcript": "NM_001318805.2",
"protein_id": "NP_001305734.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 293,
"cds_start": 538,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318805.2"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7-LOC100130357",
"gene_hgnc_id": null,
"hgvs_c": "c.538delT",
"hgvs_p": "p.Tyr180fs",
"transcript": "NM_001318809.2",
"protein_id": "NP_001305738.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 293,
"cds_start": 538,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318809.2"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7",
"gene_hgnc_id": 21066,
"hgvs_c": "c.538delT",
"hgvs_p": "p.Tyr180fs",
"transcript": "ENST00000606214.5",
"protein_id": "ENSP00000475727.1",
"transcript_support_level": 5,
"aa_start": 180,
"aa_end": null,
"aa_length": 293,
"cds_start": 538,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000606214.5"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7",
"gene_hgnc_id": 21066,
"hgvs_c": "c.538delT",
"hgvs_p": "p.Tyr180fs",
"transcript": "ENST00000906917.1",
"protein_id": "ENSP00000576976.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 293,
"cds_start": 538,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906917.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7",
"gene_hgnc_id": 21066,
"hgvs_c": "c.538delT",
"hgvs_p": "p.Tyr180fs",
"transcript": "ENST00000906918.1",
"protein_id": "ENSP00000576977.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 293,
"cds_start": 538,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906918.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7",
"gene_hgnc_id": 21066,
"hgvs_c": "c.538delT",
"hgvs_p": "p.Tyr180fs",
"transcript": "ENST00000906921.1",
"protein_id": "ENSP00000576980.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 293,
"cds_start": 538,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906921.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7",
"gene_hgnc_id": 21066,
"hgvs_c": "c.538delT",
"hgvs_p": "p.Tyr180fs",
"transcript": "ENST00000906923.1",
"protein_id": "ENSP00000576982.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 293,
"cds_start": 538,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906923.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7",
"gene_hgnc_id": 21066,
"hgvs_c": "c.538delT",
"hgvs_p": "p.Tyr180fs",
"transcript": "ENST00000906931.1",
"protein_id": "ENSP00000576990.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 293,
"cds_start": 538,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906931.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7",
"gene_hgnc_id": 21066,
"hgvs_c": "c.538delT",
"hgvs_p": "p.Tyr180fs",
"transcript": "ENST00000906932.1",
"protein_id": "ENSP00000576991.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 293,
"cds_start": 538,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906932.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7",
"gene_hgnc_id": 21066,
"hgvs_c": "c.538delT",
"hgvs_p": "p.Tyr180fs",
"transcript": "ENST00000921250.1",
"protein_id": "ENSP00000591309.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 293,
"cds_start": 538,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921250.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7",
"gene_hgnc_id": 21066,
"hgvs_c": "c.538delT",
"hgvs_p": "p.Tyr180fs",
"transcript": "ENST00000921257.1",
"protein_id": "ENSP00000591316.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 293,
"cds_start": 538,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921257.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7",
"gene_hgnc_id": 21066,
"hgvs_c": "c.538delT",
"hgvs_p": "p.Tyr180fs",
"transcript": "ENST00000921260.1",
"protein_id": "ENSP00000591319.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 293,
"cds_start": 538,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921260.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7",
"gene_hgnc_id": 21066,
"hgvs_c": "c.538delT",
"hgvs_p": "p.Tyr180fs",
"transcript": "ENST00000952330.1",
"protein_id": "ENSP00000622389.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 293,
"cds_start": 538,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952330.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7",
"gene_hgnc_id": 21066,
"hgvs_c": "c.538delT",
"hgvs_p": "p.Tyr180fs",
"transcript": "ENST00000952333.1",
"protein_id": "ENSP00000622392.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 293,
"cds_start": 538,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952333.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D7",
"gene_hgnc_id": 21066,
"hgvs_c": "c.535delT",
"hgvs_p": "p.Tyr179fs",
"transcript": "ENST00000906920.1",
"protein_id": "ENSP00000576979.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 292,
"cds_start": 535,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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"verdict": "Pathogenic",
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{
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"verdict": "Pathogenic",
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],
"clinvar_disease": " autosomal recessive,Macrocephaly/megalencephaly syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Macrocephaly/megalencephaly syndrome, autosomal recessive",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}