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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: 1-113901866-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=113901866&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 113901866,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006594.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.358T>A",
"hgvs_p": "p.Tyr120Asn",
"transcript": "NM_001253852.3",
"protein_id": "NP_001240781.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 739,
"cds_start": 358,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369569.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253852.3"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.358T>A",
"hgvs_p": "p.Tyr120Asn",
"transcript": "ENST00000369569.6",
"protein_id": "ENSP00000358582.1",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 739,
"cds_start": 358,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001253852.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369569.6"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.358T>A",
"hgvs_p": "p.Tyr120Asn",
"transcript": "ENST00000256658.8",
"protein_id": "ENSP00000256658.4",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 739,
"cds_start": 358,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256658.8"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.358T>A",
"hgvs_p": "p.Tyr120Asn",
"transcript": "ENST00000863127.1",
"protein_id": "ENSP00000533186.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 781,
"cds_start": 358,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863127.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.358T>A",
"hgvs_p": "p.Tyr120Asn",
"transcript": "NM_001438373.1",
"protein_id": "NP_001425302.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 739,
"cds_start": 358,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438373.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.358T>A",
"hgvs_p": "p.Tyr120Asn",
"transcript": "NM_006594.5",
"protein_id": "NP_006585.2",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 739,
"cds_start": 358,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006594.5"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.358T>A",
"hgvs_p": "p.Tyr120Asn",
"transcript": "ENST00000369571.3",
"protein_id": "ENSP00000358584.3",
"transcript_support_level": 3,
"aa_start": 120,
"aa_end": null,
"aa_length": 739,
"cds_start": 358,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369571.3"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.358T>A",
"hgvs_p": "p.Tyr120Asn",
"transcript": "ENST00000713590.1",
"protein_id": "ENSP00000518886.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 739,
"cds_start": 358,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713590.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.358T>A",
"hgvs_p": "p.Tyr120Asn",
"transcript": "ENST00000713645.1",
"protein_id": "ENSP00000518947.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 739,
"cds_start": 358,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713645.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.358T>A",
"hgvs_p": "p.Tyr120Asn",
"transcript": "ENST00000935535.1",
"protein_id": "ENSP00000605594.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 739,
"cds_start": 358,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935535.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.358T>A",
"hgvs_p": "p.Tyr120Asn",
"transcript": "ENST00000935541.1",
"protein_id": "ENSP00000605600.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 693,
"cds_start": 358,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935541.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.358T>A",
"hgvs_p": "p.Tyr120Asn",
"transcript": "ENST00000863132.1",
"protein_id": "ENSP00000533191.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 679,
"cds_start": 358,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863132.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.358T>A",
"hgvs_p": "p.Tyr120Asn",
"transcript": "ENST00000970396.1",
"protein_id": "ENSP00000640455.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 679,
"cds_start": 358,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970396.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.133T>A",
"hgvs_p": "p.Tyr45Asn",
"transcript": "NM_001437822.1",
"protein_id": "NP_001424751.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 664,
"cds_start": 133,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437822.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.133T>A",
"hgvs_p": "p.Tyr45Asn",
"transcript": "ENST00000369564.6",
"protein_id": "ENSP00000358577.2",
"transcript_support_level": 5,
"aa_start": 45,
"aa_end": null,
"aa_length": 664,
"cds_start": 133,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369564.6"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.133T>A",
"hgvs_p": "p.Tyr45Asn",
"transcript": "ENST00000935536.1",
"protein_id": "ENSP00000605595.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 664,
"cds_start": 133,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935536.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.133T>A",
"hgvs_p": "p.Tyr45Asn",
"transcript": "ENST00000935543.1",
"protein_id": "ENSP00000605602.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 664,
"cds_start": 133,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935543.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.358T>A",
"hgvs_p": "p.Tyr120Asn",
"transcript": "ENST00000863121.1",
"protein_id": "ENSP00000533180.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 645,
"cds_start": 358,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863121.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.358T>A",
"hgvs_p": "p.Tyr120Asn",
"transcript": "ENST00000863123.1",
"protein_id": "ENSP00000533182.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 645,
"cds_start": 358,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863123.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.358T>A",
"hgvs_p": "p.Tyr120Asn",
"transcript": "ENST00000863128.1",
"protein_id": "ENSP00000533187.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 645,
"cds_start": 358,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863128.1"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.61T>A",
"hgvs_p": "p.Tyr21Asn",
"transcript": "NM_001253853.3",
"protein_id": "NP_001240782.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 640,
"cds_start": 61,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253853.3"
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.358T>A",
"hgvs_p": "p.Tyr120Asn",
"transcript": "NM_001438375.1",
"protein_id": "NP_001425304.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 635,
"cds_start": 358,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
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}
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}