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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: 2-241191246-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=241191246&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 241191246,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001370694.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.161G>T",
"hgvs_p": "p.Arg54Leu",
"transcript": "NM_001370694.2",
"protein_id": "NP_001357623.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 879,
"cds_start": 161,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000674324.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370694.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.161G>T",
"hgvs_p": "p.Arg54Leu",
"transcript": "ENST00000674324.2",
"protein_id": "ENSP00000501393.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 879,
"cds_start": 161,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001370694.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674324.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.323G>T",
"hgvs_p": "p.Arg108Leu",
"transcript": "ENST00000274979.12",
"protein_id": "ENSP00000274979.8",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 933,
"cds_start": 323,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274979.12"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.161G>T",
"hgvs_p": "p.Arg54Leu",
"transcript": "ENST00000402530.8",
"protein_id": "ENSP00000383985.4",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 125,
"cds_start": 161,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402530.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.-80G>T",
"hgvs_p": null,
"transcript": "XM_017004230.2",
"protein_id": "XP_016859719.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 832,
"cds_start": null,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004230.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.161G>T",
"hgvs_p": "p.Arg54Leu",
"transcript": "ENST00000880342.1",
"protein_id": "ENSP00000550401.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 882,
"cds_start": 161,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880342.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.161G>T",
"hgvs_p": "p.Arg54Leu",
"transcript": "ENST00000880340.1",
"protein_id": "ENSP00000550399.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 878,
"cds_start": 161,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880340.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.161G>T",
"hgvs_p": "p.Arg54Leu",
"transcript": "ENST00000880341.1",
"protein_id": "ENSP00000550400.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 867,
"cds_start": 161,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880341.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.161G>T",
"hgvs_p": "p.Arg54Leu",
"transcript": "ENST00000402430.8",
"protein_id": "ENSP00000385418.4",
"transcript_support_level": 5,
"aa_start": 54,
"aa_end": null,
"aa_length": 829,
"cds_start": 161,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402430.8"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.161G>T",
"hgvs_p": "p.Arg54Leu",
"transcript": "NM_001001666.4",
"protein_id": "NP_001001666.2",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 125,
"cds_start": 161,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001666.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.206G>T",
"hgvs_p": "p.Arg69Leu",
"transcript": "XM_047444596.1",
"protein_id": "XP_047300552.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 928,
"cds_start": 206,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444596.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.206G>T",
"hgvs_p": "p.Arg69Leu",
"transcript": "XM_047444597.1",
"protein_id": "XP_047300553.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 927,
"cds_start": 206,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444597.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.206G>T",
"hgvs_p": "p.Arg69Leu",
"transcript": "XM_047444598.1",
"protein_id": "XP_047300554.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 924,
"cds_start": 206,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444598.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.206G>T",
"hgvs_p": "p.Arg69Leu",
"transcript": "XM_047444599.1",
"protein_id": "XP_047300555.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 920,
"cds_start": 206,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444599.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.206G>T",
"hgvs_p": "p.Arg69Leu",
"transcript": "XM_047444600.1",
"protein_id": "XP_047300556.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 906,
"cds_start": 206,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444600.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.206G>T",
"hgvs_p": "p.Arg69Leu",
"transcript": "XM_047444601.1",
"protein_id": "XP_047300557.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 905,
"cds_start": 206,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444601.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.206G>T",
"hgvs_p": "p.Arg69Leu",
"transcript": "XM_047444602.1",
"protein_id": "XP_047300558.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 903,
"cds_start": 206,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444602.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.206G>T",
"hgvs_p": "p.Arg69Leu",
"transcript": "XM_011511263.3",
"protein_id": "XP_011509565.2",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 901,
"cds_start": 206,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511263.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.206G>T",
"hgvs_p": "p.Arg69Leu",
"transcript": "XM_047444603.1",
"protein_id": "XP_047300559.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 893,
"cds_start": 206,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444603.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.206G>T",
"hgvs_p": "p.Arg69Leu",
"transcript": "XM_047444604.1",
"protein_id": "XP_047300560.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 871,
"cds_start": 206,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444604.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.206G>T",
"hgvs_p": "p.Arg69Leu",
"transcript": "XM_047444606.1",
"protein_id": "XP_047300562.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 851,
"cds_start": 206,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444606.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO7",
"gene_hgnc_id": 31677,
"hgvs_c": "c.206G>T",
"hgvs_p": "p.Arg69Leu",
"transcript": "XM_011511267.3",
"protein_id": "XP_011509569.2",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 844,
"cds_start": 206,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}