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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: 17-63704519-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63704519&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 63704519,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001003787.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Glu308Lys",
"transcript": "NM_001003787.4",
"protein_id": "NP_001003787.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 431,
"cds_start": 922,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336174.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003787.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Glu308Lys",
"transcript": "ENST00000336174.12",
"protein_id": "ENSP00000336655.6",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 431,
"cds_start": 922,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001003787.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336174.12"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.748G>A",
"hgvs_p": "p.Glu250Lys",
"transcript": "ENST00000375840.9",
"protein_id": "ENSP00000365000.4",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 373,
"cds_start": 748,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375840.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Glu271Lys",
"transcript": "ENST00000392950.9",
"protein_id": "ENSP00000376677.4",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 348,
"cds_start": 811,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392950.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.*360G>A",
"hgvs_p": null,
"transcript": "ENST00000245865.10",
"protein_id": "ENSP00000245865.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245865.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000125695",
"gene_hgnc_id": null,
"hgvs_c": "n.*836G>A",
"hgvs_p": null,
"transcript": "ENST00000580553.1",
"protein_id": "ENSP00000464100.1",
"transcript_support_level": 5,
"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": "ENST00000580553.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000125695",
"gene_hgnc_id": null,
"hgvs_c": "n.*836G>A",
"hgvs_p": null,
"transcript": "ENST00000580553.1",
"protein_id": "ENSP00000464100.1",
"transcript_support_level": 5,
"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": "ENST00000580553.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Glu308Lys",
"transcript": "ENST00000858966.1",
"protein_id": "ENSP00000529025.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 431,
"cds_start": 922,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858966.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Glu308Lys",
"transcript": "ENST00000956276.1",
"protein_id": "ENSP00000626335.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 431,
"cds_start": 922,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956276.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Glu305Lys",
"transcript": "ENST00000858963.1",
"protein_id": "ENSP00000529022.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 428,
"cds_start": 913,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858963.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Glu300Lys",
"transcript": "NM_001363786.1",
"protein_id": "NP_001350715.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 423,
"cds_start": 898,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363786.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.922G>A",
"hgvs_p": "p.Glu308Lys",
"transcript": "ENST00000638193.1",
"protein_id": "ENSP00000491928.1",
"transcript_support_level": 5,
"aa_start": 308,
"aa_end": null,
"aa_length": 403,
"cds_start": 922,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638193.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Glu279Lys",
"transcript": "NM_001363787.1",
"protein_id": "NP_001350716.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 402,
"cds_start": 835,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363787.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Glu279Lys",
"transcript": "ENST00000638708.1",
"protein_id": "ENSP00000491580.1",
"transcript_support_level": 2,
"aa_start": 279,
"aa_end": null,
"aa_length": 402,
"cds_start": 835,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638708.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Glu279Lys",
"transcript": "ENST00000858962.1",
"protein_id": "ENSP00000529021.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 402,
"cds_start": 835,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858962.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Glu279Lys",
"transcript": "ENST00000858965.1",
"protein_id": "ENSP00000529024.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 402,
"cds_start": 835,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858965.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Glu276Lys",
"transcript": "ENST00000858964.1",
"protein_id": "ENSP00000529023.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 399,
"cds_start": 826,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858964.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Glu271Lys",
"transcript": "NM_001003786.3",
"protein_id": "NP_001003786.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 394,
"cds_start": 811,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003786.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Glu271Lys",
"transcript": "ENST00000639835.1",
"protein_id": "ENSP00000492578.1",
"transcript_support_level": 2,
"aa_start": 271,
"aa_end": null,
"aa_length": 394,
"cds_start": 811,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639835.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Glu271Lys",
"transcript": "ENST00000640999.1",
"protein_id": "ENSP00000491643.1",
"transcript_support_level": 5,
"aa_start": 271,
"aa_end": null,
"aa_length": 394,
"cds_start": 811,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640999.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Glu271Lys",
"transcript": "ENST00000938502.1",
"protein_id": "ENSP00000608561.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 394,
"cds_start": 811,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938502.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STRADA",
"gene_hgnc_id": 30172,
"hgvs_c": "c.748G>A",
"hgvs_p": "p.Glu250Lys",
"transcript": "NM_001003788.3",
"protein_id": "NP_001003788.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 373,
"cds_start": 748,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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}
],
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}