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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: 12-54284196-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=54284196&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 54284196,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000340913.11",
"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": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.1064-62C>A",
"hgvs_p": null,
"transcript": "NM_031157.4",
"protein_id": "NP_112420.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": -4,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": "ENST00000340913.11",
"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": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.1064-62C>A",
"hgvs_p": null,
"transcript": "ENST00000340913.11",
"protein_id": "ENSP00000341826.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": -4,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": "NM_031157.4",
"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": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.908-62C>A",
"hgvs_p": null,
"transcript": "ENST00000546500.5",
"protein_id": "ENSP00000448617.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": -4,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4121,
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.749-62C>A",
"hgvs_p": null,
"transcript": "ENST00000547276.5",
"protein_id": "ENSP00000447260.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 267,
"cds_start": -4,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1539,
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "n.908-62C>A",
"hgvs_p": null,
"transcript": "ENST00000547566.5",
"protein_id": "ENSP00000449913.1",
"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": 1234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.*1478C>A",
"hgvs_p": null,
"transcript": "ENST00000677385.1",
"protein_id": "ENSP00000502985.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 242,
"cds_start": -4,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3999,
"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": 9,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.1064-62C>A",
"hgvs_p": null,
"transcript": "ENST00000677210.1",
"protein_id": "ENSP00000503610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": -4,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2793,
"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": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.908-44C>A",
"hgvs_p": null,
"transcript": "ENST00000677375.1",
"protein_id": "ENSP00000503651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": -4,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1811,
"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": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.908-62C>A",
"hgvs_p": null,
"transcript": "NM_002136.4",
"protein_id": "NP_002127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": -4,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3588,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.908-62C>A",
"hgvs_p": null,
"transcript": "ENST00000550482.2",
"protein_id": "ENSP00000446486.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": -4,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2596,
"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": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.905-62C>A",
"hgvs_p": null,
"transcript": "ENST00000677249.1",
"protein_id": "ENSP00000503649.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": -4,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
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"cdna_length": 2278,
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.869-62C>A",
"hgvs_p": null,
"transcript": "ENST00000330752.12",
"protein_id": "ENSP00000333504.8",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": -4,
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"cds_length": 924,
"cdna_start": 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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.773-62C>A",
"hgvs_p": null,
"transcript": "ENST00000678077.1",
"protein_id": "ENSP00000504814.1",
"transcript_support_level": null,
"aa_start": null,
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"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": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.154+229C>A",
"hgvs_p": null,
"transcript": "ENST00000677840.1",
"protein_id": "ENSP00000503273.1",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 2,
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"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.231-62C>A",
"hgvs_p": null,
"transcript": "ENST00000678970.1",
"protein_id": "ENSP00000503825.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": 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": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.73+1322C>A",
"hgvs_p": null,
"transcript": "ENST00000677778.1",
"protein_id": "ENSP00000504642.1",
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},
{
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"strand": true,
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],
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.155-62C>A",
"hgvs_p": null,
"transcript": "ENST00000678412.1",
"protein_id": "ENSP00000503562.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.154+229C>A",
"hgvs_p": null,
"transcript": "ENST00000679026.1",
"protein_id": "ENSP00000504539.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.155-353C>A",
"hgvs_p": null,
"transcript": "ENST00000679079.1",
"protein_id": "ENSP00000504545.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "HNRNPA1",
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"hgvs_c": "c.83-62C>A",
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"transcript": "ENST00000676794.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.83-62C>A",
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"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.74-62C>A",
"hgvs_p": null,
"transcript": "ENST00000678456.1",
"protein_id": "ENSP00000504368.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 42,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "n.246-62C>A",
"hgvs_p": null,
"transcript": "ENST00000551679.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 359,
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