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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: 21-37490355-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=37490355&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 37490355,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001396.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Ser273Asn",
"transcript": "NM_001347721.2",
"protein_id": "NP_001334650.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 754,
"cds_start": 818,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1750,
"cdna_end": null,
"cdna_length": 17024,
"mane_select": "ENST00000647188.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347721.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Ser273Asn",
"transcript": "ENST00000647188.2",
"protein_id": "ENSP00000494572.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 754,
"cds_start": 818,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1750,
"cdna_end": null,
"cdna_length": 17024,
"mane_select": "NM_001347721.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647188.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Ser282Asn",
"transcript": "ENST00000398960.7",
"protein_id": "ENSP00000381932.2",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 763,
"cds_start": 845,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 2782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398960.7"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Ser282Asn",
"transcript": "ENST00000338785.8",
"protein_id": "ENSP00000342690.3",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 584,
"cds_start": 845,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 5518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338785.8"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Ser282Asn",
"transcript": "ENST00000398956.2",
"protein_id": "ENSP00000381929.2",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 529,
"cds_start": 845,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398956.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Ser282Asn",
"transcript": "NM_001396.5",
"protein_id": "NP_001387.2",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 763,
"cds_start": 845,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 16457,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001396.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Ser282Asn",
"transcript": "ENST00000644942.1",
"protein_id": "ENSP00000494544.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 763,
"cds_start": 845,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 3137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644942.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Ser282Asn",
"transcript": "ENST00000865096.1",
"protein_id": "ENSP00000535155.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 763,
"cds_start": 845,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 5039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865096.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Ser282Asn",
"transcript": "ENST00000865098.1",
"protein_id": "ENSP00000535157.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 763,
"cds_start": 845,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 5355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865098.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Ser273Asn",
"transcript": "NM_001347722.2",
"protein_id": "NP_001334651.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 754,
"cds_start": 818,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 16281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347722.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Ser273Asn",
"transcript": "NM_130436.2",
"protein_id": "NP_569120.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 754,
"cds_start": 818,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 6580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130436.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Ser273Asn",
"transcript": "ENST00000643624.1",
"protein_id": "ENSP00000493627.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 754,
"cds_start": 818,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643624.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Ser273Asn",
"transcript": "ENST00000646548.1",
"protein_id": "ENSP00000495908.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 754,
"cds_start": 818,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 17562,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646548.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Ser273Asn",
"transcript": "ENST00000647425.1",
"protein_id": "ENSP00000496748.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 754,
"cds_start": 818,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647425.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Ser273Asn",
"transcript": "ENST00000865097.1",
"protein_id": "ENSP00000535156.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 754,
"cds_start": 818,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 5150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865097.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Ser273Asn",
"transcript": "ENST00000865099.1",
"protein_id": "ENSP00000535158.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 754,
"cds_start": 818,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865099.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Ser273Asn",
"transcript": "ENST00000865100.1",
"protein_id": "ENSP00000535159.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 754,
"cds_start": 818,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 2814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865100.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Ser273Asn",
"transcript": "ENST00000919132.1",
"protein_id": "ENSP00000589191.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 754,
"cds_start": 818,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 5083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919132.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Ser244Asn",
"transcript": "NM_001347723.2",
"protein_id": "NP_001334652.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 725,
"cds_start": 731,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 16938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347723.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Ser244Asn",
"transcript": "ENST00000647504.1",
"protein_id": "ENSP00000495571.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 725,
"cds_start": 731,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 5591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647504.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Ser282Asn",
"transcript": "ENST00000646523.1",
"protein_id": "ENSP00000495632.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 604,
"cds_start": 845,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646523.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYRK1A",
"gene_hgnc_id": 3091,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Ser282Asn",
"transcript": "NM_101395.2",
"protein_id": "NP_567824.1",
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],
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"dbsnp": "rs758888181",
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"computational_score_selected": 0.1794295310974121,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.261,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.057,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "PM1,BP4_Moderate,BP6_Very_Strong,BS2_Supporting",
"acmg_by_gene": [
{
"score": -9,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate",
"BP6_Very_Strong",
"BS2_Supporting"
],
"verdict": "Benign",
"transcript": "NM_001396.5",
"gene_symbol": "DYRK1A",
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"effects": [
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],
"inheritance_mode": "AD",
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}
],
"clinvar_disease": "DYRK1A-related intellectual disability syndrome,Inborn genetic diseases,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not specified|DYRK1A-related intellectual disability syndrome|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}