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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: 1-43547684-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43547684&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 43547684,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000359947.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.91+2518G>A",
"hgvs_p": null,
"transcript": "NM_002840.5",
"protein_id": "NP_002831.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1907,
"cds_start": -4,
"cds_end": null,
"cds_length": 5724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7720,
"mane_select": "ENST00000359947.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.91+2518G>A",
"hgvs_p": null,
"transcript": "ENST00000359947.9",
"protein_id": "ENSP00000353030.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1907,
"cds_start": -4,
"cds_end": null,
"cds_length": 5724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7720,
"mane_select": "NM_002840.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.91+2518G>A",
"hgvs_p": null,
"transcript": "ENST00000438120.5",
"protein_id": "ENSP00000398822.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1898,
"cds_start": -4,
"cds_end": null,
"cds_length": 5697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.91+2518G>A",
"hgvs_p": null,
"transcript": "ENST00000437607.1",
"protein_id": "ENSP00000413306.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": -4,
"cds_end": null,
"cds_length": 788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "n.216+2518G>A",
"hgvs_p": null,
"transcript": "ENST00000372405.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "n.404+2518G>A",
"hgvs_p": null,
"transcript": "ENST00000436724.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.91+2518G>A",
"hgvs_p": null,
"transcript": "ENST00000850944.1",
"protein_id": "ENSP00000521029.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1917,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.91+2518G>A",
"hgvs_p": null,
"transcript": "ENST00000850943.1",
"protein_id": "ENSP00000521028.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1913,
"cds_start": -4,
"cds_end": null,
"cds_length": 5742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PTPRF",
"gene_hgnc_id": 9670,
"hgvs_c": "c.91+2518G>A",
"hgvs_p": null,
"transcript": "NM_130440.4",
"protein_id": "NP_569707.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1898,
"cds_start": -4,
"cds_end": null,
"cds_length": 5697,
"cdna_start": null,
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"cdna_length": 7693,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 4,
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"gene_symbol": "PTPRF",
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"hgvs_c": "c.91+2518G>A",
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"transcript": "NM_001329138.2",
"protein_id": "NP_001316067.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 35,
"intron_rank": 4,
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"gene_symbol": "PTPRF",
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"hgvs_c": "c.91+2518G>A",
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"transcript": "NM_001329137.2",
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},
{
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],
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},
{
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],
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"gene_symbol": "PTPRF",
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},
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],
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"gene_symbol": "PTPRF",
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},
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],
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},
{
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],
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},
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],
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"gene_symbol": "PTPRF",
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},
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"intron_rank": 4,
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"gene_symbol": "PTPRF",
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],
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],
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},
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],
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"intron_rank": 3,
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"hgvs_c": "c.91+2518G>A",
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},
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