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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: 17-78400778-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78400778&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 78400778,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024419.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Ala268Val",
"transcript": "NM_024419.5",
"protein_id": "NP_077733.3",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 556,
"cds_start": 803,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262764.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024419.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Ala268Val",
"transcript": "ENST00000262764.11",
"protein_id": "ENSP00000262764.5",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 556,
"cds_start": 803,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024419.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262764.11"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.797C>T",
"hgvs_p": "p.Ala266Val",
"transcript": "ENST00000592043.5",
"protein_id": "ENSP00000466219.1",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 327,
"cds_start": 797,
"cds_end": null,
"cds_length": 986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592043.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "n.351C>T",
"hgvs_p": null,
"transcript": "ENST00000588281.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000588281.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "n.*402C>T",
"hgvs_p": null,
"transcript": "ENST00000589425.5",
"protein_id": "ENSP00000465278.1",
"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": "ENST00000589425.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "n.725C>T",
"hgvs_p": null,
"transcript": "ENST00000589426.5",
"protein_id": "ENSP00000468431.1",
"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": "ENST00000589426.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "n.*402C>T",
"hgvs_p": null,
"transcript": "ENST00000589425.5",
"protein_id": "ENSP00000465278.1",
"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": "ENST00000589425.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Ala268Val",
"transcript": "ENST00000890419.1",
"protein_id": "ENSP00000560478.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 514,
"cds_start": 803,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890419.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.745C>T",
"hgvs_p": "p.Arg249Trp",
"transcript": "ENST00000890421.1",
"protein_id": "ENSP00000560480.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 496,
"cds_start": 745,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890421.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Ala242Val",
"transcript": "ENST00000945009.1",
"protein_id": "ENSP00000615068.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 488,
"cds_start": 725,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945009.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.725C>T",
"hgvs_p": "p.Ala242Val",
"transcript": "ENST00000589689.5",
"protein_id": "ENSP00000465908.1",
"transcript_support_level": 2,
"aa_start": 242,
"aa_end": null,
"aa_length": 383,
"cds_start": 725,
"cds_end": null,
"cds_length": 1153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589689.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Ala268Val",
"transcript": "ENST00000920347.1",
"protein_id": "ENSP00000590406.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 382,
"cds_start": 803,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920347.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Ala268Val",
"transcript": "ENST00000920348.1",
"protein_id": "ENSP00000590407.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 382,
"cds_start": 803,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920348.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Arg239Trp",
"transcript": "ENST00000587356.1",
"protein_id": "ENSP00000465266.1",
"transcript_support_level": 3,
"aa_start": 239,
"aa_end": null,
"aa_length": 262,
"cds_start": 715,
"cds_end": null,
"cds_length": 791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587356.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Ala358Val",
"transcript": "XM_011525487.3",
"protein_id": "XP_011523789.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 646,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525487.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Ala358Val",
"transcript": "XM_017025357.2",
"protein_id": "XP_016880846.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 646,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025357.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Ala358Val",
"transcript": "XM_017025358.2",
"protein_id": "XP_016880847.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 646,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025358.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Ala332Val",
"transcript": "XM_047437101.1",
"protein_id": "XP_047293057.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 620,
"cds_start": 995,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437101.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Ala358Val",
"transcript": "XM_017025359.2",
"protein_id": "XP_016880848.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 605,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025359.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Ala358Val",
"transcript": "XM_011525488.3",
"protein_id": "XP_011523790.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 604,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525488.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Ala358Val",
"transcript": "XM_017025360.2",
"protein_id": "XP_016880849.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 604,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025360.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Ala358Val",
"transcript": "XM_011525489.3",
"protein_id": "XP_011523791.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 570,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525489.3"
},
{
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"clinvar_classification": "Uncertain significance",
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}