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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: 4-155708248-AAG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=155708248&ref=AAG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 155708248,
"ref": "AAG",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000506455.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.334_335delGA",
"hgvs_p": "p.Glu112fs",
"transcript": "NM_001130682.3",
"protein_id": "NP_001124154.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 690,
"cds_start": 334,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 9205,
"mane_select": "ENST00000506455.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.334_335delGA",
"hgvs_p": "p.Glu112fs",
"transcript": "ENST00000506455.6",
"protein_id": "ENSP00000424361.1",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 690,
"cds_start": 334,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 9205,
"mane_select": "NM_001130682.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.334_335delGA",
"hgvs_p": "p.Glu112fs",
"transcript": "ENST00000296518.11",
"protein_id": "ENSP00000296518.7",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 690,
"cds_start": 334,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 4400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.334_335delGA",
"hgvs_p": "p.Glu112fs",
"transcript": "ENST00000511108.5",
"protein_id": "ENSP00000421493.1",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 690,
"cds_start": 334,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 2992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.334_335delGA",
"hgvs_p": "p.Glu112fs",
"transcript": "ENST00000513574.1",
"protein_id": "ENSP00000426040.1",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 690,
"cds_start": 334,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.334_335delGA",
"hgvs_p": "p.Glu112fs",
"transcript": "ENST00000511507.5",
"protein_id": "ENSP00000426968.1",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 624,
"cds_start": 334,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 2552,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "n.334_335delGA",
"hgvs_p": null,
"transcript": "ENST00000443668.6",
"protein_id": "ENSP00000409903.2",
"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": 4352,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "n.334_335delGA",
"hgvs_p": null,
"transcript": "ENST00000515201.5",
"protein_id": "ENSP00000422141.1",
"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": 1282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.-441_-440delGA",
"hgvs_p": null,
"transcript": "ENST00000393832.7",
"protein_id": "ENSP00000377418.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": -4,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.334_335delGA",
"hgvs_p": "p.Glu112fs",
"transcript": "NM_000856.6",
"protein_id": "NP_000847.2",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 690,
"cds_start": 334,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 9299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.334_335delGA",
"hgvs_p": "p.Glu112fs",
"transcript": "NM_001130683.4",
"protein_id": "NP_001124155.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 690,
"cds_start": 334,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 9460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.334_335delGA",
"hgvs_p": "p.Glu112fs",
"transcript": "NM_001130684.3",
"protein_id": "NP_001124156.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 690,
"cds_start": 334,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 9284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.334_335delGA",
"hgvs_p": "p.Glu112fs",
"transcript": "NM_001256449.2",
"protein_id": "NP_001243378.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 690,
"cds_start": 334,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 9389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.334_335delGA",
"hgvs_p": "p.Glu112fs",
"transcript": "NM_001379666.1",
"protein_id": "NP_001366595.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 690,
"cds_start": 334,
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"cds_length": 2073,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 9155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.334_335delGA",
"hgvs_p": "p.Glu112fs",
"transcript": "NM_001379667.1",
"protein_id": "NP_001366596.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 690,
"cds_start": 334,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 9410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.334_335delGA",
"hgvs_p": "p.Glu112fs",
"transcript": "NM_001379668.1",
"protein_id": "NP_001366597.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 690,
"cds_start": 334,
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"cdna_start": 872,
"cdna_end": null,
"cdna_length": 9439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.334_335delGA",
"hgvs_p": "p.Glu112fs",
"transcript": "NM_001379669.1",
"protein_id": "NP_001366598.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 690,
"cds_start": 334,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 9960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.334_335delGA",
"hgvs_p": "p.Glu112fs",
"transcript": "NM_001379670.1",
"protein_id": "NP_001366599.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 690,
"cds_start": 334,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 9180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.334_335delGA",
"hgvs_p": "p.Glu112fs",
"transcript": "NM_001379671.1",
"protein_id": "NP_001366600.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 690,
"cds_start": 334,
"cds_end": null,
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"cdna_start": 1138,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.334_335delGA",
"hgvs_p": "p.Glu112fs",
"transcript": "NM_001379672.1",
"protein_id": "NP_001366601.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 690,
"cds_start": 334,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 9374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.334_335delGA",
"hgvs_p": "p.Glu112fs",
"transcript": "NM_001379673.1",
"protein_id": "NP_001366602.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 690,
"cds_start": 334,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 9533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.334_335delGA",
"hgvs_p": "p.Glu112fs",
"transcript": "NM_001379674.1",
"protein_id": "NP_001366603.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 690,
"cds_start": 334,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 9234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
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"clinvar_submissions_summary": "P:1 LP:1 US:1",
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}