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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: 11-9139723-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=9139723&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 9139723,
"ref": "TG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000328194.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "c.3811delC",
"hgvs_p": "p.Gln1271fs",
"transcript": "NM_015213.4",
"protein_id": "NP_056028.2",
"transcript_support_level": null,
"aa_start": 1271,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3811,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 4092,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": "ENST00000328194.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "c.3811delC",
"hgvs_p": "p.Gln1271fs",
"transcript": "ENST00000328194.8",
"protein_id": "ENSP00000328524.3",
"transcript_support_level": 1,
"aa_start": 1271,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3811,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 4092,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": "NM_015213.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "c.3871delC",
"hgvs_p": "p.Gln1291fs",
"transcript": "ENST00000679568.1",
"protein_id": "ENSP00000505860.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1307,
"cds_start": 3871,
"cds_end": null,
"cds_length": 3924,
"cdna_start": 3921,
"cdna_end": null,
"cdna_length": 4796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "c.3739delC",
"hgvs_p": "p.Gln1247fs",
"transcript": "NM_001348749.2",
"protein_id": "NP_001335678.1",
"transcript_support_level": null,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1263,
"cds_start": 3739,
"cds_end": null,
"cds_length": 3792,
"cdna_start": 4020,
"cdna_end": null,
"cdna_length": 4919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "c.3739delC",
"hgvs_p": "p.Gln1247fs",
"transcript": "ENST00000681203.1",
"protein_id": "ENSP00000506456.1",
"transcript_support_level": null,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1263,
"cds_start": 3739,
"cds_end": null,
"cds_length": 3792,
"cdna_start": 3824,
"cdna_end": null,
"cdna_length": 4710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "c.3604delC",
"hgvs_p": "p.Gln1202fs",
"transcript": "ENST00000680294.1",
"protein_id": "ENSP00000506113.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 1218,
"cds_start": 3604,
"cds_end": null,
"cds_length": 3657,
"cdna_start": 3654,
"cdna_end": null,
"cdna_length": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "c.3523delC",
"hgvs_p": "p.Gln1175fs",
"transcript": "NM_001348750.2",
"protein_id": "NP_001335679.1",
"transcript_support_level": null,
"aa_start": 1175,
"aa_end": null,
"aa_length": 1191,
"cds_start": 3523,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 4128,
"cdna_end": null,
"cdna_length": 5027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "c.532delC",
"hgvs_p": "p.Gln178fs",
"transcript": "ENST00000533737.5",
"protein_id": "ENSP00000435368.1",
"transcript_support_level": 3,
"aa_start": 178,
"aa_end": null,
"aa_length": 194,
"cds_start": 532,
"cds_end": null,
"cds_length": 585,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "c.505delC",
"hgvs_p": "p.Gln169fs",
"transcript": "ENST00000528725.5",
"protein_id": "ENSP00000434237.1",
"transcript_support_level": 3,
"aa_start": 169,
"aa_end": null,
"aa_length": 185,
"cds_start": 505,
"cds_end": null,
"cds_length": 558,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.1673delC",
"hgvs_p": null,
"transcript": "ENST00000525784.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.3373delC",
"hgvs_p": null,
"transcript": "ENST00000527700.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.1712delC",
"hgvs_p": null,
"transcript": "ENST00000529977.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.*3637delC",
"hgvs_p": null,
"transcript": "ENST00000530780.2",
"protein_id": "ENSP00000433925.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.3482delC",
"hgvs_p": null,
"transcript": "ENST00000531747.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.5817delC",
"hgvs_p": null,
"transcript": "ENST00000679446.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.5212delC",
"hgvs_p": null,
"transcript": "ENST00000679458.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 6097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.4873delC",
"hgvs_p": null,
"transcript": "ENST00000679460.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.4316delC",
"hgvs_p": null,
"transcript": "ENST00000679745.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.2972delC",
"hgvs_p": null,
"transcript": "ENST00000679773.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.5113delC",
"hgvs_p": null,
"transcript": "ENST00000679926.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.*868delC",
"hgvs_p": null,
"transcript": "ENST00000679999.1",
"protein_id": "ENSP00000505198.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.*857delC",
"hgvs_p": null,
"transcript": "ENST00000680252.1",
"protein_id": "ENSP00000505222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND5A",
"gene_hgnc_id": 19344,
"hgvs_c": "n.3110delC",
"hgvs_p": null,
"transcript": "ENST00000680358.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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}
],
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}