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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: 2-208325795-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=208325795&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 208325795,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015040.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2984A>C",
"hgvs_p": "p.Gln995Pro",
"transcript": "NM_015040.4",
"protein_id": "NP_055855.2",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 2098,
"cds_start": 2984,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 3154,
"cdna_end": null,
"cdna_length": 9908,
"mane_select": "ENST00000264380.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015040.4"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2984A>C",
"hgvs_p": "p.Gln995Pro",
"transcript": "ENST00000264380.9",
"protein_id": "ENSP00000264380.4",
"transcript_support_level": 1,
"aa_start": 995,
"aa_end": null,
"aa_length": 2098,
"cds_start": 2984,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 3154,
"cdna_end": null,
"cdna_length": 9908,
"mane_select": "NM_015040.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264380.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "n.*2335A>C",
"hgvs_p": null,
"transcript": "ENST00000443896.5",
"protein_id": "ENSP00000407692.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000443896.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "n.*2335A>C",
"hgvs_p": null,
"transcript": "ENST00000443896.5",
"protein_id": "ENSP00000407692.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000443896.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2999A>C",
"hgvs_p": "p.Gln1000Pro",
"transcript": "ENST00000909798.1",
"protein_id": "ENSP00000579857.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 2103,
"cds_start": 2999,
"cds_end": null,
"cds_length": 6312,
"cdna_start": 3176,
"cdna_end": null,
"cdna_length": 7835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909798.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2966A>C",
"hgvs_p": "p.Gln989Pro",
"transcript": "ENST00000923116.1",
"protein_id": "ENSP00000593175.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 2092,
"cds_start": 2966,
"cds_end": null,
"cds_length": 6279,
"cdna_start": 3007,
"cdna_end": null,
"cdna_length": 9743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923116.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2798A>C",
"hgvs_p": "p.Gln933Pro",
"transcript": "ENST00000923111.1",
"protein_id": "ENSP00000593170.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 2036,
"cds_start": 2798,
"cds_end": null,
"cds_length": 6111,
"cdna_start": 2985,
"cdna_end": null,
"cdna_length": 9737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923111.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2693A>C",
"hgvs_p": "p.Gln898Pro",
"transcript": "ENST00000923110.1",
"protein_id": "ENSP00000593169.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 2001,
"cds_start": 2693,
"cds_end": null,
"cds_length": 6006,
"cdna_start": 2738,
"cdna_end": null,
"cdna_length": 9501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923110.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2693A>C",
"hgvs_p": "p.Gln898Pro",
"transcript": "ENST00000923112.1",
"protein_id": "ENSP00000593171.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 2001,
"cds_start": 2693,
"cds_end": null,
"cds_length": 6006,
"cdna_start": 2871,
"cdna_end": null,
"cdna_length": 9626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923112.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2687A>C",
"hgvs_p": "p.Gln896Pro",
"transcript": "ENST00000923117.1",
"protein_id": "ENSP00000593176.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1999,
"cds_start": 2687,
"cds_end": null,
"cds_length": 6000,
"cdna_start": 2763,
"cdna_end": null,
"cdna_length": 9514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923117.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2675A>C",
"hgvs_p": "p.Gln892Pro",
"transcript": "ENST00000923113.1",
"protein_id": "ENSP00000593172.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 1995,
"cds_start": 2675,
"cds_end": null,
"cds_length": 5988,
"cdna_start": 2865,
"cdna_end": null,
"cdna_length": 9604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923113.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2543A>C",
"hgvs_p": "p.Gln848Pro",
"transcript": "ENST00000960156.1",
"protein_id": "ENSP00000630215.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1951,
"cds_start": 2543,
"cds_end": null,
"cds_length": 5856,
"cdna_start": 2734,
"cdna_end": null,
"cdna_length": 9485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960156.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2543A>C",
"hgvs_p": "p.Gln848Pro",
"transcript": "ENST00000960157.1",
"protein_id": "ENSP00000630216.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1951,
"cds_start": 2543,
"cds_end": null,
"cds_length": 5856,
"cdna_start": 2725,
"cdna_end": null,
"cdna_length": 9483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960157.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2525A>C",
"hgvs_p": "p.Gln842Pro",
"transcript": "ENST00000923115.1",
"protein_id": "ENSP00000593174.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1945,
"cds_start": 2525,
"cds_end": null,
"cds_length": 5838,
"cdna_start": 2707,
"cdna_end": null,
"cdna_length": 9447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923115.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2543A>C",
"hgvs_p": "p.Gln848Pro",
"transcript": "ENST00000960158.1",
"protein_id": "ENSP00000630217.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1896,
"cds_start": 2543,
"cds_end": null,
"cds_length": 5691,
"cdna_start": 2665,
"cdna_end": null,
"cdna_length": 9259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960158.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2375A>C",
"hgvs_p": "p.Gln792Pro",
"transcript": "ENST00000923114.1",
"protein_id": "ENSP00000593173.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 1895,
"cds_start": 2375,
"cds_end": null,
"cds_length": 5688,
"cdna_start": 2549,
"cdna_end": null,
"cdna_length": 9300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923114.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2816A>C",
"hgvs_p": "p.Gln939Pro",
"transcript": "ENST00000452564.1",
"protein_id": "ENSP00000405736.1",
"transcript_support_level": 2,
"aa_start": 939,
"aa_end": null,
"aa_length": 1383,
"cds_start": 2816,
"cds_end": null,
"cds_length": 4152,
"cdna_start": 2878,
"cdna_end": null,
"cdna_length": 4214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452564.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3020A>C",
"hgvs_p": "p.Gln1007Pro",
"transcript": "XM_011510778.4",
"protein_id": "XP_011509080.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 2110,
"cds_start": 3020,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 3190,
"cdna_end": null,
"cdna_length": 9944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510778.4"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3020A>C",
"hgvs_p": "p.Gln1007Pro",
"transcript": "XM_011510779.3",
"protein_id": "XP_011509081.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 2110,
"cds_start": 3020,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 3247,
"cdna_end": null,
"cdna_length": 10001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510779.3"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3017A>C",
"hgvs_p": "p.Gln1006Pro",
"transcript": "XM_011510780.3",
"protein_id": "XP_011509082.1",
"transcript_support_level": null,
"aa_start": 1006,
"aa_end": null,
"aa_length": 2109,
"cds_start": 3017,
"cds_end": null,
"cds_length": 6330,
"cdna_start": 3187,
"cdna_end": null,
"cdna_length": 9941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510780.3"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3002A>C",
"hgvs_p": "p.Gln1001Pro",
"transcript": "XM_011510781.4",
"protein_id": "XP_011509083.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 2104,
"cds_start": 3002,
"cds_end": null,
"cds_length": 6315,
"cdna_start": 3172,
"cdna_end": null,
"cdna_length": 9926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510781.4"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2984A>C",
"hgvs_p": "p.Gln995Pro",
"transcript": "XM_047443667.1",
"protein_id": "XP_047299623.1",
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}