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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: 9-23817550-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=23817550&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 23817550,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000397312.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.-16+8256T>C",
"hgvs_p": null,
"transcript": "NM_004432.5",
"protein_id": "NP_004423.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": -4,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3983,
"mane_select": "ENST00000397312.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.-16+8256T>C",
"hgvs_p": null,
"transcript": "ENST00000397312.7",
"protein_id": "ENSP00000380479.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": -4,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3983,
"mane_select": "NM_004432.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.-13+8256T>C",
"hgvs_p": null,
"transcript": "ENST00000380117.5",
"protein_id": "ENSP00000369460.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": -4,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.-16+3677T>C",
"hgvs_p": null,
"transcript": "ENST00000223951.10",
"protein_id": "ENSP00000223951.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": -4,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.-20+8256T>C",
"hgvs_p": null,
"transcript": "NM_001351455.2",
"protein_id": "NP_001338384.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 389,
"cds_start": -4,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.-20+5216T>C",
"hgvs_p": null,
"transcript": "NM_001385697.1",
"protein_id": "NP_001372626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 389,
"cds_start": -4,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.-20+4055T>C",
"hgvs_p": null,
"transcript": "NM_001385698.1",
"protein_id": "NP_001372627.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 389,
"cds_start": -4,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
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"cdna_length": 3858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.-20+3677T>C",
"hgvs_p": null,
"transcript": "NM_001385704.1",
"protein_id": "NP_001372633.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 389,
"cds_start": -4,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.-20+3677T>C",
"hgvs_p": null,
"transcript": "ENST00000380110.8",
"protein_id": "ENSP00000369453.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 389,
"cds_start": -4,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.-20+32357T>C",
"hgvs_p": null,
"transcript": "NM_001351456.2",
"protein_id": "NP_001338385.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4054,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "ELAVL2",
"gene_hgnc_id": 3313,
"hgvs_c": "c.-20+8256T>C",
"hgvs_p": null,
"transcript": "NM_001351457.2",
"protein_id": "NP_001338386.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "ELAVL2",
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},
{
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],
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"gene_symbol": "ELAVL2",
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"hgvs_c": "c.-20+3677T>C",
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"transcript": "NM_001351459.2",
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},
{
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],
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"gene_symbol": "ELAVL2",
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"hgvs_c": "c.-20+32357T>C",
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},
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],
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},
{
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],
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"gene_symbol": "ELAVL2",
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},
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],
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"gene_symbol": "ELAVL2",
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"hgvs_c": "c.-20+4055T>C",
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},
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],
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"gene_symbol": "ELAVL2",
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"hgvs_c": "c.-20+3385T>C",
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"transcript": "NM_001385707.1",
"protein_id": "NP_001372636.1",
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],
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},
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"consequences": [
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],
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"gene_symbol": "ELAVL2",
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"hgvs_c": "c.-20+8256T>C",
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},
{
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"consequences": [
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],
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"gene_symbol": "ELAVL2",
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"hgvs_c": "c.-20+3677T>C",
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"clinvar_disease": "",
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}
],
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}