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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: 17-39653683-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39653683&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 39653683,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006804.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "NM_006804.4",
"protein_id": "NP_006795.3",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 445,
"cds_start": 152,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": "ENST00000336308.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000336308.10",
"protein_id": "ENSP00000337446.5",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 445,
"cds_start": 152,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": "NM_006804.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000580611.5",
"protein_id": "ENSP00000463613.1",
"transcript_support_level": 5,
"aa_start": 51,
"aa_end": null,
"aa_length": 475,
"cds_start": 152,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "NM_001165937.2",
"protein_id": "NP_001159409.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 445,
"cds_start": 152,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000544210.6",
"protein_id": "ENSP00000439869.2",
"transcript_support_level": 2,
"aa_start": 51,
"aa_end": null,
"aa_length": 445,
"cds_start": 152,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "NM_001165938.2",
"protein_id": "NP_001159410.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 427,
"cds_start": 152,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000394250.8",
"protein_id": "ENSP00000377794.4",
"transcript_support_level": 2,
"aa_start": 51,
"aa_end": null,
"aa_length": 427,
"cds_start": 152,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000443521.1",
"protein_id": "ENSP00000411710.1",
"transcript_support_level": 5,
"aa_start": 51,
"aa_end": null,
"aa_length": 195,
"cds_start": 152,
"cds_end": null,
"cds_length": 588,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000583419.5",
"protein_id": "ENSP00000463681.1",
"transcript_support_level": 4,
"aa_start": 51,
"aa_end": null,
"aa_length": 160,
"cds_start": 152,
"cds_end": null,
"cds_length": 485,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000577248.5",
"protein_id": "ENSP00000463460.1",
"transcript_support_level": 4,
"aa_start": 51,
"aa_end": null,
"aa_length": 155,
"cds_start": 152,
"cds_end": null,
"cds_length": 470,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000581894.5",
"protein_id": "ENSP00000462859.1",
"transcript_support_level": 3,
"aa_start": 51,
"aa_end": null,
"aa_length": 117,
"cds_start": 152,
"cds_end": null,
"cds_length": 356,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000583718.5",
"protein_id": "ENSP00000464204.1",
"transcript_support_level": 4,
"aa_start": 51,
"aa_end": null,
"aa_length": 116,
"cds_start": 152,
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"cds_length": 353,
"cdna_start": 349,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000579479.5",
"protein_id": "ENSP00000462483.1",
"transcript_support_level": 4,
"aa_start": 51,
"aa_end": null,
"aa_length": 110,
"cds_start": 152,
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"cds_length": 333,
"cdna_start": 379,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "ENST00000580331.5",
"protein_id": "ENSP00000462541.1",
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"aa_start": 51,
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"cdna_start": 446,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "XM_047435159.1",
"protein_id": "XP_047291115.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 501,
"cds_start": 152,
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"cds_length": 1506,
"cdna_start": 291,
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"cdna_length": 2793,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "XM_047435160.1",
"protein_id": "XP_047291116.1",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "XM_047435162.1",
"protein_id": "XP_047291118.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "XM_047435163.1",
"protein_id": "XP_047291119.1",
"transcript_support_level": null,
"aa_start": 51,
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"aa_length": 501,
"cds_start": 152,
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"cdna_start": 222,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "XM_047435164.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "XM_017024041.3",
"protein_id": "XP_016879530.1",
"transcript_support_level": null,
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},
{
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"strand": true,
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],
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"intron_rank": null,
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"gene_symbol": "STARD3",
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"hgvs_c": "c.152G>T",
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"transcript": "XM_047435165.1",
"protein_id": "XP_047291121.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "XM_047435166.1",
"protein_id": "XP_047291122.1",
"transcript_support_level": null,
"aa_start": 51,
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"aa_length": 412,
"cds_start": 152,
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"cdna_start": 291,
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"cdna_length": 2671,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.152G>T",
"hgvs_p": "p.Arg51Leu",
"transcript": "XM_047435167.1",
"protein_id": "XP_047291123.1",
"transcript_support_level": null,
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}