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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: 3-1227914-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=1227914&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 1227914,
"ref": "A",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001349359.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.279A>T",
"hgvs_p": "p.Gln93His",
"transcript": "NM_001289080.2",
"protein_id": "NP_001276009.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1028,
"cds_start": 279,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": "ENST00000446702.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289080.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.279A>T",
"hgvs_p": "p.Gln93His",
"transcript": "ENST00000446702.7",
"protein_id": "ENSP00000407822.2",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 1028,
"cds_start": 279,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": "NM_001289080.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446702.7"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.279A>T",
"hgvs_p": "p.Gln93His",
"transcript": "ENST00000350110.2",
"protein_id": "ENSP00000341882.2",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 1028,
"cds_start": 279,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 3814,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "n.*257A>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": 1433,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "n.*257A>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": 1433,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000394261.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_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.-659A>T",
"hgvs_p": null,
"transcript": "NM_001349359.2",
"protein_id": "NP_001336288.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": null,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349359.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.-537A>T",
"hgvs_p": null,
"transcript": "NM_001349360.2",
"protein_id": "NP_001336289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": null,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349360.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.-839A>T",
"hgvs_p": null,
"transcript": "NM_001349361.2",
"protein_id": "NP_001336290.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": null,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349361.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.-741A>T",
"hgvs_p": null,
"transcript": "NM_001349362.2",
"protein_id": "NP_001336291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": null,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349362.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.279A>T",
"hgvs_p": "p.Gln93His",
"transcript": "NM_001349350.2",
"protein_id": "NP_001336279.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1028,
"cds_start": 279,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 4413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349350.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.279A>T",
"hgvs_p": "p.Gln93His",
"transcript": "NM_001349351.2",
"protein_id": "NP_001336280.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1028,
"cds_start": 279,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349351.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.279A>T",
"hgvs_p": "p.Gln93His",
"transcript": "NM_001349352.2",
"protein_id": "NP_001336281.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1028,
"cds_start": 279,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 4172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349352.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.279A>T",
"hgvs_p": "p.Gln93His",
"transcript": "NM_001349353.2",
"protein_id": "NP_001336282.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1028,
"cds_start": 279,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 4176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349353.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.279A>T",
"hgvs_p": "p.Gln93His",
"transcript": "NM_001349354.2",
"protein_id": "NP_001336283.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1028,
"cds_start": 279,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 4185,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349354.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.279A>T",
"hgvs_p": "p.Gln93His",
"transcript": "NM_001349355.2",
"protein_id": "NP_001336284.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1028,
"cds_start": 279,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 4234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349355.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.279A>T",
"hgvs_p": "p.Gln93His",
"transcript": "NM_014461.4",
"protein_id": "NP_055276.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1028,
"cds_start": 279,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014461.4"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.279A>T",
"hgvs_p": "p.Gln93His",
"transcript": "ENST00000861157.1",
"protein_id": "ENSP00000531216.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1028,
"cds_start": 279,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 3434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861157.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.279A>T",
"hgvs_p": "p.Gln93His",
"transcript": "ENST00000947275.1",
"protein_id": "ENSP00000617334.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1028,
"cds_start": 279,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 3815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947275.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.279A>T",
"hgvs_p": "p.Gln93His",
"transcript": "ENST00000947276.1",
"protein_id": "ENSP00000617335.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1028,
"cds_start": 279,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 3636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947276.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.279A>T",
"hgvs_p": "p.Gln93His",
"transcript": "ENST00000947277.1",
"protein_id": "ENSP00000617336.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1028,
"cds_start": 279,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947277.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.279A>T",
"hgvs_p": "p.Gln93His",
"transcript": "ENST00000947278.1",
"protein_id": "ENSP00000617337.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 1028,
"cds_start": 279,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947278.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.279A>T",
"hgvs_p": "p.Gln93His",
"transcript": "NM_001349356.2",
"protein_id": "NP_001336285.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 992,
"cds_start": 279,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 458,
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"phenotype_combined": "not specified",
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}
],
"message": null
}