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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: 21-31120622-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=31120622&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 31120622,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003253.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn",
"transcript": "NM_001353694.2",
"protein_id": "NP_001340623.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4522,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000541036.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353694.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn",
"transcript": "ENST00000541036.6",
"protein_id": "ENSP00000441570.2",
"transcript_support_level": 5,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4522,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001353694.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541036.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4600G>A",
"hgvs_p": "p.Asp1534Asn",
"transcript": "ENST00000923710.1",
"protein_id": "ENSP00000593769.1",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4600,
"cds_end": null,
"cds_length": 4854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923710.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn",
"transcript": "NM_001353688.1",
"protein_id": "NP_001340617.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4522,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353688.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn",
"transcript": "NM_001353689.1",
"protein_id": "NP_001340618.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4522,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353689.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn",
"transcript": "NM_001353690.1",
"protein_id": "NP_001340619.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4522,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353690.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn",
"transcript": "NM_001353691.1",
"protein_id": "NP_001340620.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4522,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353691.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn",
"transcript": "NM_001353692.1",
"protein_id": "NP_001340621.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4522,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353692.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn",
"transcript": "NM_001353693.1",
"protein_id": "NP_001340622.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4522,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353693.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn",
"transcript": "NM_003253.3",
"protein_id": "NP_003244.2",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4522,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003253.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn",
"transcript": "ENST00000286827.7",
"protein_id": "ENSP00000286827.3",
"transcript_support_level": 5,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4522,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286827.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn",
"transcript": "ENST00000869069.1",
"protein_id": "ENSP00000539128.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4522,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869069.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn",
"transcript": "ENST00000923707.1",
"protein_id": "ENSP00000593766.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4522,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923707.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn",
"transcript": "ENST00000923708.1",
"protein_id": "ENSP00000593767.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4522,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923708.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn",
"transcript": "ENST00000923709.1",
"protein_id": "ENSP00000593768.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4522,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923709.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn",
"transcript": "ENST00000923711.1",
"protein_id": "ENSP00000593770.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4522,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923711.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn",
"transcript": "ENST00000923713.1",
"protein_id": "ENSP00000593772.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4522,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923713.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn",
"transcript": "ENST00000923714.1",
"protein_id": "ENSP00000593773.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 1591,
"cds_start": 4522,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923714.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4447G>A",
"hgvs_p": "p.Asp1483Asn",
"transcript": "NM_001353686.2",
"protein_id": "NP_001340615.1",
"transcript_support_level": null,
"aa_start": 1483,
"aa_end": null,
"aa_length": 1566,
"cds_start": 4447,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353686.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4447G>A",
"hgvs_p": "p.Asp1483Asn",
"transcript": "NM_001353687.2",
"protein_id": "NP_001340616.1",
"transcript_support_level": null,
"aa_start": 1483,
"aa_end": null,
"aa_length": 1566,
"cds_start": 4447,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353687.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4447G>A",
"hgvs_p": "p.Asp1483Asn",
"transcript": "ENST00000869070.1",
"protein_id": "ENSP00000539129.1",
"transcript_support_level": null,
"aa_start": 1483,
"aa_end": null,
"aa_length": 1566,
"cds_start": 4447,
"cds_end": null,
"cds_length": 4701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869070.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TIAM1",
"gene_hgnc_id": 11805,
"hgvs_c": "c.4447G>A",
"hgvs_p": "p.Asp1483Asn",
"transcript": "ENST00000923712.1",
"protein_id": "ENSP00000593771.1",
"transcript_support_level": null,
"aa_start": 1483,
"aa_end": null,
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
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{
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"BP4"
],
"verdict": "Uncertain_significance",
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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
}