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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: 16-67825669-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67825669&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67825669,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000561639.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "c.817A>G",
"hgvs_p": "p.Ile273Val",
"transcript": "NM_001288990.3",
"protein_id": "NP_001275919.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 712,
"cds_start": 817,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 2475,
"mane_select": "ENST00000561639.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "c.817A>G",
"hgvs_p": "p.Ile273Val",
"transcript": "ENST00000561639.6",
"protein_id": "ENSP00000457241.1",
"transcript_support_level": 2,
"aa_start": 273,
"aa_end": null,
"aa_length": 712,
"cds_start": 817,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 2475,
"mane_select": "NM_001288990.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "c.655A>G",
"hgvs_p": "p.Ile219Val",
"transcript": "ENST00000388833.7",
"protein_id": "ENSP00000373485.3",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 658,
"cds_start": 655,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 2429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "n.*297A>G",
"hgvs_p": null,
"transcript": "ENST00000466164.5",
"protein_id": "ENSP00000458938.1",
"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": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "n.686A>G",
"hgvs_p": null,
"transcript": "ENST00000487120.5",
"protein_id": null,
"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": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "n.345A>G",
"hgvs_p": null,
"transcript": "ENST00000565339.5",
"protein_id": null,
"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": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "n.*297A>G",
"hgvs_p": null,
"transcript": "ENST00000466164.5",
"protein_id": "ENSP00000458938.1",
"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": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "c.655A>G",
"hgvs_p": "p.Ile219Val",
"transcript": "NM_018430.4",
"protein_id": "NP_060900.2",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 658,
"cds_start": 655,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 2664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Ile204Val",
"transcript": "NM_001288991.3",
"protein_id": "NP_001275920.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 643,
"cds_start": 610,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 2268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Ile204Val",
"transcript": "ENST00000415766.7",
"protein_id": "ENSP00000411472.3",
"transcript_support_level": 2,
"aa_start": 204,
"aa_end": null,
"aa_length": 643,
"cds_start": 610,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 2338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "c.553A>G",
"hgvs_p": "p.Ile185Val",
"transcript": "NM_001351158.2",
"protein_id": "NP_001338087.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 587,
"cds_start": 553,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "c.268A>G",
"hgvs_p": "p.Ile90Val",
"transcript": "ENST00000431934.2",
"protein_id": "ENSP00000397147.2",
"transcript_support_level": 2,
"aa_start": 90,
"aa_end": null,
"aa_length": 427,
"cds_start": 268,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 1284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "c.-302A>G",
"hgvs_p": null,
"transcript": "NM_001288992.3",
"protein_id": "NP_001275921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": -4,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "c.-302A>G",
"hgvs_p": null,
"transcript": "NM_001288993.3",
"protein_id": "NP_001275922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": -4,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "c.-302A>G",
"hgvs_p": null,
"transcript": "NM_001288994.3",
"protein_id": "NP_001275923.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": -4,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "c.817A>G",
"hgvs_p": "p.Ile273Val",
"transcript": "XM_011523230.3",
"protein_id": "XP_011521532.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 744,
"cds_start": 817,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 2571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "c.817A>G",
"hgvs_p": "p.Ile273Val",
"transcript": "XM_011523231.3",
"protein_id": "XP_011521533.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 737,
"cds_start": 817,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "c.817A>G",
"hgvs_p": "p.Ile273Val",
"transcript": "XM_011523232.3",
"protein_id": "XP_011521534.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 728,
"cds_start": 817,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "c.817A>G",
"hgvs_p": "p.Ile273Val",
"transcript": "XM_011523233.3",
"protein_id": "XP_011521535.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 719,
"cds_start": 817,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "c.817A>G",
"hgvs_p": "p.Ile273Val",
"transcript": "XM_011523234.3",
"protein_id": "XP_011521536.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 700,
"cds_start": 817,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 2439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "c.817A>G",
"hgvs_p": "p.Ile273Val",
"transcript": "XM_005256049.5",
"protein_id": "XP_005256106.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 675,
"cds_start": 817,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "c.610A>G",
"hgvs_p": "p.Ile204Val",
"transcript": "XM_011523236.4",
"protein_id": "XP_011521538.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 675,
"cds_start": 610,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
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}