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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: 2-203407367-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=203407367&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 203407367,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000261018.12",
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.1193-3918C>T",
"hgvs_p": null,
"transcript": "NM_001375670.1",
"protein_id": "NP_001362599.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": -4,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6567,
"mane_select": "ENST00000261018.12",
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.1193-3918C>T",
"hgvs_p": null,
"transcript": "ENST00000261018.12",
"protein_id": "ENSP00000261018.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": -4,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6567,
"mane_select": "NM_001375670.1",
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.1192+4633C>T",
"hgvs_p": null,
"transcript": "ENST00000295851.10",
"protein_id": "ENSP00000295851.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 513,
"cds_start": -4,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 22039,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.1192+4633C>T",
"hgvs_p": null,
"transcript": "ENST00000417864.5",
"protein_id": "ENSP00000414703.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": -4,
"cds_end": null,
"cds_length": 1459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1567,
"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": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.992-3918C>T",
"hgvs_p": null,
"transcript": "ENST00000261017.9",
"protein_id": "ENSP00000261017.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 475,
"cds_start": -4,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6484,
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "n.*773+4633C>T",
"hgvs_p": null,
"transcript": "ENST00000441061.5",
"protein_id": "ENSP00000410509.2",
"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": 1430,
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "RAPH1",
"gene_hgnc_id": 14436,
"hgvs_c": "c.1777-12278G>A",
"hgvs_p": null,
"transcript": "ENST00000457812.5",
"protein_id": "ENSP00000392854.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": -4,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2673,
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.1190-3918C>T",
"hgvs_p": null,
"transcript": "NM_001375671.1",
"protein_id": "NP_001362600.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 541,
"cds_start": -4,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6564,
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.1193-3918C>T",
"hgvs_p": null,
"transcript": "NM_001375672.1",
"protein_id": "NP_001362601.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 541,
"cds_start": -4,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.1193-3918C>T",
"hgvs_p": null,
"transcript": "NM_001375673.1",
"protein_id": "NP_001362602.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 540,
"cds_start": -4,
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"cds_length": 1623,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 9,
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"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.1190-3918C>T",
"hgvs_p": null,
"transcript": "NM_001375674.1",
"protein_id": "NP_001362603.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "ABI2",
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"transcript": "NM_001375675.1",
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},
{
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],
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"gene_symbol": "ABI2",
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"hgvs_c": "c.1193-517C>T",
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"transcript": "NM_001375676.1",
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},
{
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],
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"intron_rank": 9,
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"gene_symbol": "ABI2",
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"hgvs_c": "c.1192+4633C>T",
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"transcript": "NM_001282925.3",
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},
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],
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},
{
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],
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"intron_rank": 9,
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"gene_symbol": "ABI2",
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],
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"hgvs_c": "c.1174+4633C>T",
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},
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],
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"intron_rank": 8,
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"gene_symbol": "ABI2",
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"hgvs_c": "c.1174+4633C>T",
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"transcript": "ENST00000424558.5",
"protein_id": "ENSP00000391433.1",
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],
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"gene_symbol": "ABI2",
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},
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],
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},
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],
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"gene_symbol": "ABI2",
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"hgvs_c": "c.1046-3918C>T",
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"transcript": "NM_001375682.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 10,
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"gene_symbol": "ABI2",
"gene_hgnc_id": 24011,
"hgvs_c": "c.1028-3918C>T",
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"transcript": "NM_001375683.1",
"protein_id": "NP_001362612.1",
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