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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: 19-44175798-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44175798&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 44175798,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001032373.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Thr179Ser",
"transcript": "NM_001032373.2",
"protein_id": "NP_001027545.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 803,
"cds_start": 536,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": "ENST00000337433.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Thr179Ser",
"transcript": "ENST00000337433.10",
"protein_id": "ENSP00000336719.5",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 803,
"cds_start": 536,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": "NM_001032373.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Thr179Ser",
"transcript": "ENST00000454662.6",
"protein_id": "ENSP00000393265.1",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 803,
"cds_start": 536,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Thr179Ser",
"transcript": "ENST00000590089.5",
"protein_id": "ENSP00000465121.1",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 803,
"cds_start": 536,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.*2811C>G",
"hgvs_p": null,
"transcript": "ENST00000588883.5",
"protein_id": "ENSP00000465401.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": -4,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Thr179Ser",
"transcript": "NM_001032372.2",
"protein_id": "NP_001027544.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 803,
"cds_start": 536,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 2667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Thr179Ser",
"transcript": "NM_001319088.2",
"protein_id": "NP_001306017.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 803,
"cds_start": 536,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Thr179Ser",
"transcript": "NM_001319089.2",
"protein_id": "NP_001306018.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 803,
"cds_start": 536,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 2589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Thr179Ser",
"transcript": "NM_001319090.2",
"protein_id": "NP_001306019.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 803,
"cds_start": 536,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 2609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Thr179Ser",
"transcript": "NM_001388168.1",
"protein_id": "NP_001375097.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 803,
"cds_start": 536,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Thr179Ser",
"transcript": "NM_001388169.1",
"protein_id": "NP_001375098.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 803,
"cds_start": 536,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Thr179Ser",
"transcript": "NM_001388170.1",
"protein_id": "NP_001375099.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 803,
"cds_start": 536,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Thr179Ser",
"transcript": "NM_001388171.1",
"protein_id": "NP_001375100.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 803,
"cds_start": 536,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Thr179Ser",
"transcript": "NM_001388172.1",
"protein_id": "NP_001375101.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 803,
"cds_start": 536,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Thr179Ser",
"transcript": "NM_016444.3",
"protein_id": "NP_057528.2",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 803,
"cds_start": 536,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 2845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Thr143Ser",
"transcript": "NM_001388178.1",
"protein_id": "NP_001375107.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 767,
"cds_start": 428,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Thr179Ser",
"transcript": "XM_006723367.4",
"protein_id": "XP_006723430.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 803,
"cds_start": 536,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Thr179Ser",
"transcript": "XM_006723368.4",
"protein_id": "XP_006723431.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 803,
"cds_start": 536,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Thr179Ser",
"transcript": "XM_047439374.1",
"protein_id": "XP_047295330.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 803,
"cds_start": 536,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 3016,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "n.676C>G",
"hgvs_p": null,
"transcript": "XR_002958356.2",
"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": 10563,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "n.676C>G",
"hgvs_p": null,
"transcript": "XR_002958357.2",
"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": 10406,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "n.676C>G",
"hgvs_p": null,
"transcript": "XR_007066992.1",
"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": 24214,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"hgvs_c": "n.676C>G",
"hgvs_p": null,
"transcript": "XR_007066994.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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},
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},
{
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},
{
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],
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},
{
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],
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},
{
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],
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"gene_symbol": "ZNF226",
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}
],
"gene_symbol": "ZNF226",
"gene_hgnc_id": 13019,
"dbsnp": "rs780404010",
"frequency_reference_population": 0.000007436972,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000752706,
"gnomad_genomes_af": 0.00000657177,
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"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.045119285583496094,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.08,
"revel_prediction": "Benign",
"alphamissense_score": 0.0811,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.104,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001032373.2",
"gene_symbol": "ZNF226",
"hgnc_id": 13019,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Thr179Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}