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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: X-47447899-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=47447899&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 47447899,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001324155.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1871C>G",
"hgvs_p": "p.Ala624Gly",
"transcript": "NM_001324144.2",
"protein_id": "NP_001311073.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 779,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2278,
"cdna_end": null,
"cdna_length": 4999,
"mane_select": "ENST00000684689.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324144.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"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": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1871C>G",
"hgvs_p": "p.Ala624Gly",
"transcript": "ENST00000684689.1",
"protein_id": "ENSP00000508254.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 779,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2278,
"cdna_end": null,
"cdna_length": 4999,
"mane_select": "NM_001324144.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684689.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1871C>G",
"hgvs_p": "p.Ala624Gly",
"transcript": "ENST00000313116.11",
"protein_id": "ENSP00000315173.7",
"transcript_support_level": 1,
"aa_start": 624,
"aa_end": null,
"aa_length": 779,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2277,
"cdna_end": null,
"cdna_length": 4297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313116.11"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1871C>G",
"hgvs_p": "p.Ala624Gly",
"transcript": "ENST00000377065.8",
"protein_id": "ENSP00000366265.4",
"transcript_support_level": 1,
"aa_start": 624,
"aa_end": null,
"aa_length": 779,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2511,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377065.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1997C>G",
"hgvs_p": "p.Ala666Gly",
"transcript": "NM_001324155.1",
"protein_id": "NP_001311084.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 821,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 4907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324155.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1997C>G",
"hgvs_p": "p.Ala666Gly",
"transcript": "ENST00000915706.1",
"protein_id": "ENSP00000585765.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 821,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2738,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915706.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1997C>G",
"hgvs_p": "p.Ala666Gly",
"transcript": "ENST00000968634.1",
"protein_id": "ENSP00000638693.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 821,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2393,
"cdna_end": null,
"cdna_length": 5401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968634.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1973C>G",
"hgvs_p": "p.Ala658Gly",
"transcript": "NM_001324154.1",
"protein_id": "NP_001311083.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 813,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 4883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324154.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1973C>G",
"hgvs_p": "p.Ala658Gly",
"transcript": "ENST00000915708.1",
"protein_id": "ENSP00000585767.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 813,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2450,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915708.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1973C>G",
"hgvs_p": "p.Ala658Gly",
"transcript": "ENST00000968632.1",
"protein_id": "ENSP00000638691.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 813,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2339,
"cdna_end": null,
"cdna_length": 5456,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968632.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1973C>G",
"hgvs_p": "p.Ala658Gly",
"transcript": "ENST00000968640.1",
"protein_id": "ENSP00000638699.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 813,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2714,
"cdna_end": null,
"cdna_length": 3912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968640.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1901C>G",
"hgvs_p": "p.Ala634Gly",
"transcript": "NM_001324151.2",
"protein_id": "NP_001311080.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 789,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 5039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324151.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1901C>G",
"hgvs_p": "p.Ala634Gly",
"transcript": "NM_001324153.2",
"protein_id": "NP_001311082.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 789,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2228,
"cdna_end": null,
"cdna_length": 4949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324153.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1877C>G",
"hgvs_p": "p.Ala626Gly",
"transcript": "NM_001324142.2",
"protein_id": "NP_001311071.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 781,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 2204,
"cdna_end": null,
"cdna_length": 4925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324142.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1877C>G",
"hgvs_p": "p.Ala626Gly",
"transcript": "NM_001324148.2",
"protein_id": "NP_001311077.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 781,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 2294,
"cdna_end": null,
"cdna_length": 5015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324148.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1871C>G",
"hgvs_p": "p.Ala624Gly",
"transcript": "NM_001324140.2",
"protein_id": "NP_001311069.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 779,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2188,
"cdna_end": null,
"cdna_length": 4909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324140.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1871C>G",
"hgvs_p": "p.Ala624Gly",
"transcript": "NM_001324147.2",
"protein_id": "NP_001311076.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 779,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2249,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324147.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1871C>G",
"hgvs_p": "p.Ala624Gly",
"transcript": "NM_001324150.2",
"protein_id": "NP_001311079.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 779,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2376,
"cdna_end": null,
"cdna_length": 5097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324150.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1871C>G",
"hgvs_p": "p.Ala624Gly",
"transcript": "NM_007130.4",
"protein_id": "NP_009061.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 779,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 5017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007130.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1871C>G",
"hgvs_p": "p.Ala624Gly",
"transcript": "NM_153380.3",
"protein_id": "NP_700359.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 779,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2511,
"cdna_end": null,
"cdna_length": 5232,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153380.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1871C>G",
"hgvs_p": "p.Ala624Gly",
"transcript": "ENST00000894174.1",
"protein_id": "ENSP00000564233.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 779,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2240,
"cdna_end": null,
"cdna_length": 5446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894174.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.1871C>G",
"hgvs_p": "p.Ala624Gly",
"transcript": "ENST00000894175.1",
"protein_id": "ENSP00000564234.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 779,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2204,
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{
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{
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{
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],
"gene_symbol": "ZNF41",
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"dbsnp": "rs866998933",
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"hom_count_reference_population": 1,
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"computational_score_selected": 0.19214600324630737,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.327,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001324155.1",
"gene_symbol": "ZNF41",
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"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1997C>G",
"hgvs_p": "p.Ala666Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}