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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: 1-1806513-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1806513&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1806513,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000378609.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.229G>T",
"hgvs_p": "p.Gly77Cys",
"transcript": "NM_002074.5",
"protein_id": "NP_002065.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": "ENST00000378609.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.229G>T",
"hgvs_p": "p.Gly77Cys",
"transcript": "ENST00000378609.9",
"protein_id": "ENSP00000367872.3",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": "NM_002074.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.-72G>T",
"hgvs_p": null,
"transcript": "NM_001282538.2",
"protein_id": "NP_001269467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.-72G>T",
"hgvs_p": null,
"transcript": "ENST00000615252.5",
"protein_id": "ENSP00000483532.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.229G>T",
"hgvs_p": "p.Gly77Cys",
"transcript": "NM_001282539.2",
"protein_id": "NP_001269468.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.229G>T",
"hgvs_p": "p.Gly77Cys",
"transcript": "ENST00000610897.4",
"protein_id": "ENSP00000481878.1",
"transcript_support_level": 5,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.229G>T",
"hgvs_p": "p.Gly77Cys",
"transcript": "ENST00000703692.1",
"protein_id": "ENSP00000515427.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 3265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.229G>T",
"hgvs_p": "p.Gly77Cys",
"transcript": "ENST00000703693.1",
"protein_id": "ENSP00000515428.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 3484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.229G>T",
"hgvs_p": "p.Gly77Cys",
"transcript": "ENST00000703694.1",
"protein_id": "ENSP00000515429.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 3139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.229G>T",
"hgvs_p": "p.Gly77Cys",
"transcript": "ENST00000703696.1",
"protein_id": "ENSP00000515431.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.229G>T",
"hgvs_p": "p.Gly77Cys",
"transcript": "ENST00000703697.1",
"protein_id": "ENSP00000515432.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.229G>T",
"hgvs_p": "p.Gly77Cys",
"transcript": "ENST00000703699.1",
"protein_id": "ENSP00000515433.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.229G>T",
"hgvs_p": "p.Gly77Cys",
"transcript": "ENST00000703700.1",
"protein_id": "ENSP00000515434.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 2875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.229G>T",
"hgvs_p": "p.Gly77Cys",
"transcript": "ENST00000703701.1",
"protein_id": "ENSP00000515435.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 3214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.229G>T",
"hgvs_p": "p.Gly77Cys",
"transcript": "ENST00000703702.1",
"protein_id": "ENSP00000515436.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.229G>T",
"hgvs_p": "p.Gly77Cys",
"transcript": "ENST00000703703.1",
"protein_id": "ENSP00000515437.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.229G>T",
"hgvs_p": "p.Gly77Cys",
"transcript": "ENST00000703704.1",
"protein_id": "ENSP00000515438.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.229G>T",
"hgvs_p": "p.Gly77Cys",
"transcript": "ENST00000703706.1",
"protein_id": "ENSP00000515440.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 2579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.229G>T",
"hgvs_p": "p.Gly77Cys",
"transcript": "ENST00000703708.1",
"protein_id": "ENSP00000515442.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.229G>T",
"hgvs_p": "p.Gly77Cys",
"transcript": "ENST00000703709.1",
"protein_id": "ENSP00000515443.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.229G>T",
"hgvs_p": "p.Gly77Cys",
"transcript": "ENST00000703710.1",
"protein_id": "ENSP00000515444.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.229G>T",
"hgvs_p": "p.Gly77Cys",
"transcript": "ENST00000703711.1",
"protein_id": "ENSP00000515445.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB1",
"gene_hgnc_id": 4396,
"hgvs_c": "c.190G>T",
"hgvs_p": "p.Gly64Cys",
"transcript": "ENST00000439272.7",
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}