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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: 1-33021616-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=33021616&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 33021616,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000672715.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Trp",
"transcript": "NM_001625.4",
"protein_id": "NP_001616.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 239,
"cds_start": 307,
"cds_end": null,
"cds_length": 720,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 5970,
"mane_select": "ENST00000672715.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Trp",
"transcript": "ENST00000672715.1",
"protein_id": "ENSP00000499935.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 239,
"cds_start": 307,
"cds_end": null,
"cds_length": 720,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 5970,
"mane_select": "NM_001625.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Trp",
"transcript": "ENST00000373449.7",
"protein_id": "ENSP00000362548.2",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 232,
"cds_start": 307,
"cds_end": null,
"cds_length": 699,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61Trp",
"transcript": "ENST00000354858.11",
"protein_id": "ENSP00000346921.7",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 197,
"cds_start": 181,
"cds_end": null,
"cds_length": 594,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 5059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61Trp",
"transcript": "ENST00000548033.5",
"protein_id": "ENSP00000449003.1",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 190,
"cds_start": 181,
"cds_end": null,
"cds_length": 573,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Trp",
"transcript": "NM_001319141.3",
"protein_id": "NP_001306070.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 232,
"cds_start": 307,
"cds_end": null,
"cds_length": 699,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 3646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Trp",
"transcript": "NM_013411.5",
"protein_id": "NP_037543.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 232,
"cds_start": 307,
"cds_end": null,
"cds_length": 699,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Trp",
"transcript": "ENST00000467905.5",
"protein_id": "ENSP00000447082.1",
"transcript_support_level": 2,
"aa_start": 103,
"aa_end": null,
"aa_length": 232,
"cds_start": 307,
"cds_end": null,
"cds_length": 699,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Trp",
"transcript": "NM_001199199.3",
"protein_id": "NP_001186128.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 224,
"cds_start": 307,
"cds_end": null,
"cds_length": 675,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 3573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Arg55Trp",
"transcript": "NM_001319140.2",
"protein_id": "NP_001306069.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 191,
"cds_start": 163,
"cds_end": null,
"cds_length": 576,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 6088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61Trp",
"transcript": "NM_001319142.3",
"protein_id": "NP_001306071.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 190,
"cds_start": 181,
"cds_end": null,
"cds_length": 573,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 3471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.163C>T",
"hgvs_p": "p.Arg55Trp",
"transcript": "NM_001319139.3",
"protein_id": "NP_001306068.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 184,
"cds_start": 163,
"cds_end": null,
"cds_length": 555,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 3715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Trp",
"transcript": "ENST00000487289.1",
"protein_id": "ENSP00000446849.1",
"transcript_support_level": 2,
"aa_start": 103,
"aa_end": null,
"aa_length": 162,
"cds_start": 307,
"cds_end": null,
"cds_length": 489,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Trp",
"transcript": "ENST00000673291.1",
"protein_id": "ENSP00000500549.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 162,
"cds_start": 307,
"cds_end": null,
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"cdna_start": 342,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Trp",
"transcript": "NM_001319143.2",
"protein_id": "NP_001306072.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 133,
"cds_start": 307,
"cds_end": null,
"cds_length": 402,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 5875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Arg103Trp",
"transcript": "ENST00000480134.5",
"protein_id": "ENSP00000450109.1",
"transcript_support_level": 2,
"aa_start": 103,
"aa_end": null,
"aa_length": 133,
"cds_start": 307,
"cds_end": null,
"cds_length": 402,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "n.88C>T",
"hgvs_p": null,
"transcript": "ENST00000466029.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "n.340C>T",
"hgvs_p": null,
"transcript": "ENST00000469238.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 6140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "n.*296C>T",
"hgvs_p": null,
"transcript": "ENST00000491241.2",
"protein_id": "ENSP00000512049.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "n.521C>T",
"hgvs_p": null,
"transcript": "ENST00000548559.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "n.*296C>T",
"hgvs_p": null,
"transcript": "ENST00000550338.6",
"protein_id": "ENSP00000450008.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "n.342C>T",
"hgvs_p": null,
"transcript": "ENST00000672308.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "n.1446C>T",
"hgvs_p": null,
"transcript": "ENST00000695598.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
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"clinvar_submissions_summary": "P:2 LP:1",
"phenotype_combined": "Reticular dysgenesis|Severe combined immunodeficiency disease",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
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}
],
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}