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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: 21-45216929-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=45216929&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 45216929,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000348831.9",
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ADARB1",
"gene_hgnc_id": 226,
"hgvs_c": "c.1748-3907C>T",
"hgvs_p": null,
"transcript": "NM_001112.4",
"protein_id": "NP_001103.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 701,
"cds_start": -4,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6902,
"mane_select": "ENST00000348831.9",
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ADARB1",
"gene_hgnc_id": 226,
"hgvs_c": "c.1748-3907C>T",
"hgvs_p": null,
"transcript": "ENST00000348831.9",
"protein_id": "ENSP00000015877.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 701,
"cds_start": -4,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6902,
"mane_select": "NM_001112.4",
"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": 8,
"intron_rank_end": null,
"gene_symbol": "ADARB1",
"gene_hgnc_id": 226,
"hgvs_c": "c.1868-3907C>T",
"hgvs_p": null,
"transcript": "ENST00000360697.4",
"protein_id": "ENSP00000353920.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 741,
"cds_start": -4,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6604,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "ADARB1",
"gene_hgnc_id": 226,
"hgvs_c": "c.1868-3907C>T",
"hgvs_p": null,
"transcript": "ENST00000437626.5",
"protein_id": "ENSP00000414600.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 741,
"cds_start": -4,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5032,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "ADARB1",
"gene_hgnc_id": 226,
"hgvs_c": "c.1868-3907C>T",
"hgvs_p": null,
"transcript": "ENST00000389863.8",
"protein_id": "ENSP00000374513.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 714,
"cds_start": -4,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3563,
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ADARB1",
"gene_hgnc_id": 226,
"hgvs_c": "n.1748-3907C>T",
"hgvs_p": null,
"transcript": "ENST00000389861.7",
"protein_id": "ENSP00000516121.1",
"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": 5031,
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ADARB1",
"gene_hgnc_id": 226,
"hgvs_c": "n.1748-3907C>T",
"hgvs_p": null,
"transcript": "ENST00000492414.5",
"protein_id": "ENSP00000436367.1",
"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": 4913,
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ADARB1",
"gene_hgnc_id": 226,
"hgvs_c": "n.1868-3907C>T",
"hgvs_p": null,
"transcript": "ENST00000496664.5",
"protein_id": "ENSP00000435381.1",
"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": 5033,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "ADARB1",
"gene_hgnc_id": 226,
"hgvs_c": "c.1895-3907C>T",
"hgvs_p": null,
"transcript": "NM_001410722.1",
"protein_id": "NP_001397651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 750,
"cds_start": -4,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6695,
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ADARB1",
"gene_hgnc_id": 226,
"hgvs_c": "c.1895-3907C>T",
"hgvs_p": null,
"transcript": "ENST00000705392.1",
"protein_id": "ENSP00000516122.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 750,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": 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": 10,
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"gene_symbol": "ADARB1",
"gene_hgnc_id": 226,
"hgvs_c": "c.1868-3907C>T",
"hgvs_p": null,
"transcript": "NM_015833.4",
"protein_id": "NP_056648.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
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"gene_symbol": "ADARB1",
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"hgvs_c": "c.1868-3907C>T",
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"transcript": "ENST00000449478.2",
"protein_id": "ENSP00000387480.2",
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},
{
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],
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"intron_rank": 9,
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"gene_symbol": "ADARB1",
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"hgvs_c": "c.2015-3907C>T",
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"transcript": "NM_001346687.2",
"protein_id": "NP_001333616.1",
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},
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],
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"gene_symbol": "ADARB1",
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"hgvs_c": "c.2015-3907C>T",
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"transcript": "ENST00000705393.1",
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},
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],
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"gene_symbol": "ADARB1",
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"hgvs_c": "c.1868-3907C>T",
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"transcript": "NM_015834.4",
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},
{
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],
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"gene_symbol": "ADARB1",
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"hgvs_c": "c.1748-3907C>T",
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"hgvs_c": "c.1748-3907C>T",
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},
{
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],
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"gene_symbol": "ADARB1",
"gene_hgnc_id": 226,
"hgvs_c": "n.1246-3907C>T",
"hgvs_p": null,
"transcript": "NR_027672.2",
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},
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],
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],
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],
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"gene_symbol": "ADARB1",
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"hgvs_c": "n.2181-3907C>T",
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"feature": null
},
{
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"consequences": [
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],
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"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ADARB1",
"gene_hgnc_id": 226,
"hgvs_c": "c.1961-3907C>T",
"hgvs_p": null,
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"protein_id": "XP_047296616.1",
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},
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