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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: 3-1220695-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=1220695&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 1220695,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014461.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Leu22Phe",
"transcript": "NM_001289080.2",
"protein_id": "NP_001276009.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1028,
"cds_start": 64,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000446702.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289080.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Leu22Phe",
"transcript": "ENST00000446702.7",
"protein_id": "ENSP00000407822.2",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 1028,
"cds_start": 64,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001289080.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446702.7"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Leu22Phe",
"transcript": "ENST00000350110.2",
"protein_id": "ENSP00000341882.2",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 1028,
"cds_start": 64,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350110.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "n.*42C>T",
"hgvs_p": null,
"transcript": "ENST00000394261.2",
"protein_id": "ENSP00000377804.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000394261.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "n.*42C>T",
"hgvs_p": null,
"transcript": "ENST00000394261.2",
"protein_id": "ENSP00000377804.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000394261.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Leu22Phe",
"transcript": "NM_001349350.2",
"protein_id": "NP_001336279.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1028,
"cds_start": 64,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349350.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Leu22Phe",
"transcript": "NM_001349351.2",
"protein_id": "NP_001336280.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1028,
"cds_start": 64,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349351.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Leu22Phe",
"transcript": "NM_001349352.2",
"protein_id": "NP_001336281.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1028,
"cds_start": 64,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349352.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Leu22Phe",
"transcript": "NM_001349353.2",
"protein_id": "NP_001336282.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1028,
"cds_start": 64,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349353.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Leu22Phe",
"transcript": "NM_001349354.2",
"protein_id": "NP_001336283.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1028,
"cds_start": 64,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349354.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Leu22Phe",
"transcript": "NM_001349355.2",
"protein_id": "NP_001336284.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1028,
"cds_start": 64,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349355.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Leu22Phe",
"transcript": "NM_014461.4",
"protein_id": "NP_055276.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1028,
"cds_start": 64,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014461.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Leu22Phe",
"transcript": "ENST00000861157.1",
"protein_id": "ENSP00000531216.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1028,
"cds_start": 64,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861157.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Leu22Phe",
"transcript": "ENST00000947275.1",
"protein_id": "ENSP00000617334.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1028,
"cds_start": 64,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947275.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Leu22Phe",
"transcript": "ENST00000947276.1",
"protein_id": "ENSP00000617335.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1028,
"cds_start": 64,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947276.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Leu22Phe",
"transcript": "ENST00000947277.1",
"protein_id": "ENSP00000617336.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1028,
"cds_start": 64,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947277.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Leu22Phe",
"transcript": "ENST00000947278.1",
"protein_id": "ENSP00000617337.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1028,
"cds_start": 64,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947278.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Leu22Phe",
"transcript": "NM_001349356.2",
"protein_id": "NP_001336285.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 992,
"cds_start": 64,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349356.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Leu22Phe",
"transcript": "NM_001349357.2",
"protein_id": "NP_001336286.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 924,
"cds_start": 64,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349357.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Leu22Phe",
"transcript": "ENST00000861156.1",
"protein_id": "ENSP00000531215.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 864,
"cds_start": 64,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861156.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Leu22Phe",
"transcript": "NM_001349358.2",
"protein_id": "NP_001336287.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 843,
"cds_start": 64,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349358.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Leu22Phe",
"transcript": "XM_011533590.3",
"protein_id": "XP_011531892.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1028,
"cds_start": 64,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}
],
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}