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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: 1-33013271-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=33013271&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 33013271,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001625.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.630C>G",
"hgvs_p": "p.Ile210Met",
"transcript": "NM_001625.4",
"protein_id": "NP_001616.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 239,
"cds_start": 630,
"cds_end": null,
"cds_length": 720,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 5970,
"mane_select": "ENST00000672715.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001625.4"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.630C>G",
"hgvs_p": "p.Ile210Met",
"transcript": "ENST00000672715.1",
"protein_id": "ENSP00000499935.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 239,
"cds_start": 630,
"cds_end": null,
"cds_length": 720,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 5970,
"mane_select": "NM_001625.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672715.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.630C>G",
"hgvs_p": "p.Ile210Met",
"transcript": "ENST00000373449.7",
"protein_id": "ENSP00000362548.2",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 232,
"cds_start": 630,
"cds_end": null,
"cds_length": 699,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373449.7"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.504C>G",
"hgvs_p": "p.Ile168Met",
"transcript": "ENST00000354858.11",
"protein_id": "ENSP00000346921.7",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 197,
"cds_start": 504,
"cds_end": null,
"cds_length": 594,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 5059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354858.11"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.504C>G",
"hgvs_p": "p.Ile168Met",
"transcript": "ENST00000548033.5",
"protein_id": "ENSP00000449003.1",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 190,
"cds_start": 504,
"cds_end": null,
"cds_length": 573,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548033.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.786C>G",
"hgvs_p": "p.Ile262Met",
"transcript": "ENST00000910011.1",
"protein_id": "ENSP00000580070.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 291,
"cds_start": 786,
"cds_end": null,
"cds_length": 876,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 1047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910011.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.630C>G",
"hgvs_p": "p.Ile210Met",
"transcript": "NM_001319141.3",
"protein_id": "NP_001306070.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 232,
"cds_start": 630,
"cds_end": null,
"cds_length": 699,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 3646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319141.3"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.630C>G",
"hgvs_p": "p.Ile210Met",
"transcript": "NM_013411.5",
"protein_id": "NP_037543.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 232,
"cds_start": 630,
"cds_end": null,
"cds_length": 699,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013411.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.630C>G",
"hgvs_p": "p.Ile210Met",
"transcript": "ENST00000467905.5",
"protein_id": "ENSP00000447082.1",
"transcript_support_level": 2,
"aa_start": 210,
"aa_end": null,
"aa_length": 232,
"cds_start": 630,
"cds_end": null,
"cds_length": 699,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467905.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.606C>G",
"hgvs_p": "p.Ile202Met",
"transcript": "NM_001199199.3",
"protein_id": "NP_001186128.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 224,
"cds_start": 606,
"cds_end": null,
"cds_length": 675,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 3573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199199.3"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.519C>G",
"hgvs_p": "p.Ile173Met",
"transcript": "ENST00000910012.1",
"protein_id": "ENSP00000580071.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 202,
"cds_start": 519,
"cds_end": null,
"cds_length": 609,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910012.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Ile162Met",
"transcript": "NM_001319140.2",
"protein_id": "NP_001306069.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 191,
"cds_start": 486,
"cds_end": null,
"cds_length": 576,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 6088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319140.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.504C>G",
"hgvs_p": "p.Ile168Met",
"transcript": "NM_001319142.3",
"protein_id": "NP_001306071.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 190,
"cds_start": 504,
"cds_end": null,
"cds_length": 573,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 3471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319142.3"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "c.486C>G",
"hgvs_p": "p.Ile162Met",
"transcript": "NM_001319139.3",
"protein_id": "NP_001306068.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 184,
"cds_start": 486,
"cds_end": null,
"cds_length": 555,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 3715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319139.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_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": "c.*133C>G",
"hgvs_p": null,
"transcript": "NM_001319143.2",
"protein_id": "NP_001306072.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 133,
"cds_start": null,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5875,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319143.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_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": "c.*133C>G",
"hgvs_p": null,
"transcript": "ENST00000480134.5",
"protein_id": "ENSP00000450109.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 133,
"cds_start": null,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000480134.5"
},
{
"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.1782C>G",
"hgvs_p": null,
"transcript": "ENST00000469238.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 6140,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000469238.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "n.*619C>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3110,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000491241.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "n.*619C>G",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2832,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000550338.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "n.665C>G",
"hgvs_p": null,
"transcript": "ENST00000672308.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2840,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000672308.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "n.1769C>G",
"hgvs_p": null,
"transcript": "ENST00000695598.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6153,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000695598.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK2",
"gene_hgnc_id": 362,
"hgvs_c": "n.*5512C>G",
"hgvs_p": null,
"transcript": "ENST00000695599.1",
"protein_id": "ENSP00000512046.1",
"transcript_support_level": null,
"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": 7687,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695599.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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}