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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: 12-54283844-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=54283844&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 54283844,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000340913.11",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Asp314Asn",
"transcript": "NM_031157.4",
"protein_id": "NP_112420.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 372,
"cds_start": 940,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": "ENST00000340913.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Asp314Asn",
"transcript": "ENST00000340913.11",
"protein_id": "ENSP00000341826.7",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 372,
"cds_start": 940,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": "NM_031157.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Asp262Asn",
"transcript": "ENST00000546500.5",
"protein_id": "ENSP00000448617.1",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 320,
"cds_start": 784,
"cds_end": null,
"cds_length": 963,
"cdna_start": 1399,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Asp209Asn",
"transcript": "ENST00000547276.5",
"protein_id": "ENSP00000447260.1",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 267,
"cds_start": 625,
"cds_end": null,
"cds_length": 804,
"cdna_start": 653,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "n.784G>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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Asp314Asn",
"transcript": "ENST00000677210.1",
"protein_id": "ENSP00000503610.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 372,
"cds_start": 940,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Asp262Asn",
"transcript": "ENST00000677375.1",
"protein_id": "ENSP00000503651.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 326,
"cds_start": 784,
"cds_end": null,
"cds_length": 981,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Asp262Asn",
"transcript": "NM_002136.4",
"protein_id": "NP_002127.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 320,
"cds_start": 784,
"cds_end": null,
"cds_length": 963,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Asp262Asn",
"transcript": "ENST00000550482.2",
"protein_id": "ENSP00000446486.2",
"transcript_support_level": 2,
"aa_start": 262,
"aa_end": null,
"aa_length": 320,
"cds_start": 784,
"cds_end": null,
"cds_length": 963,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Asp261Asn",
"transcript": "ENST00000677249.1",
"protein_id": "ENSP00000503649.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 319,
"cds_start": 781,
"cds_end": null,
"cds_length": 960,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Asp249Asn",
"transcript": "ENST00000330752.12",
"protein_id": "ENSP00000333504.8",
"transcript_support_level": 5,
"aa_start": 249,
"aa_end": null,
"aa_length": 307,
"cds_start": 745,
"cds_end": null,
"cds_length": 924,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 1294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Asp217Asn",
"transcript": "ENST00000678077.1",
"protein_id": "ENSP00000504814.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 275,
"cds_start": 649,
"cds_end": null,
"cds_length": 828,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 2067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.436G>A",
"hgvs_p": "p.Asp146Asn",
"transcript": "ENST00000547708.5",
"protein_id": "ENSP00000448229.1",
"transcript_support_level": 4,
"aa_start": 146,
"aa_end": null,
"aa_length": 155,
"cds_start": 436,
"cds_end": null,
"cds_length": 470,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Asp11Asn",
"transcript": "ENST00000677840.1",
"protein_id": "ENSP00000503273.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 107,
"cds_start": 31,
"cds_end": null,
"cds_length": 324,
"cdna_start": 33,
"cdna_end": null,
"cdna_length": 362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Asp63Asn",
"transcript": "ENST00000676951.1",
"protein_id": "ENSP00000502981.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 102,
"cds_start": 187,
"cds_end": null,
"cds_length": 310,
"cdna_start": 189,
"cdna_end": null,
"cdna_length": 312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.172G>A",
"hgvs_p": "p.Asp58Asn",
"transcript": "ENST00000678611.1",
"protein_id": "ENSP00000504004.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 97,
"cds_start": 172,
"cds_end": null,
"cds_length": 295,
"cdna_start": 174,
"cdna_end": null,
"cdna_length": 297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Asp56Asn",
"transcript": "ENST00000676853.1",
"protein_id": "ENSP00000503749.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 95,
"cds_start": 166,
"cds_end": null,
"cds_length": 289,
"cdna_start": 168,
"cdna_end": null,
"cdna_length": 291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Asp56Asn",
"transcript": "ENST00000678581.1",
"protein_id": "ENSP00000504251.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 95,
"cds_start": 166,
"cds_end": null,
"cds_length": 289,
"cdna_start": 168,
"cdna_end": null,
"cdna_length": 291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.163G>A",
"hgvs_p": "p.Asp55Asn",
"transcript": "ENST00000678424.1",
"protein_id": "ENSP00000503030.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 94,
"cds_start": 163,
"cds_end": null,
"cds_length": 286,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Asp42Asn",
"transcript": "ENST00000677636.1",
"protein_id": "ENSP00000503254.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 81,
"cds_start": 124,
"cds_end": null,
"cds_length": 247,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Asp42Asn",
"transcript": "ENST00000678876.1",
"protein_id": "ENSP00000503756.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 81,
"cds_start": 124,
"cds_end": null,
"cds_length": 247,
"cdna_start": 126,
"cdna_end": null,
"cdna_length": 249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.109G>A",
"hgvs_p": "p.Asp37Asn",
"transcript": "ENST00000677945.1",
"protein_id": "ENSP00000503056.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 76,
"cds_start": 109,
"cds_end": null,
"cds_length": 232,
"cdna_start": 111,
"cdna_end": null,
"cdna_length": 234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA1",
"gene_hgnc_id": 5031,
"hgvs_c": "c.106G>A",
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}
],
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}