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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: 7-34940224-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=34940224&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 34940224,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001366673.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L1",
"gene_hgnc_id": 22205,
"hgvs_c": "c.1793A>G",
"hgvs_p": "p.Asn598Ser",
"transcript": "NM_001366673.1",
"protein_id": "NP_001353602.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 748,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1884,
"cdna_end": null,
"cdna_length": 5030,
"mane_select": "ENST00000638088.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366673.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L1",
"gene_hgnc_id": 22205,
"hgvs_c": "c.1793A>G",
"hgvs_p": "p.Asn598Ser",
"transcript": "ENST00000638088.2",
"protein_id": "ENSP00000490722.1",
"transcript_support_level": 5,
"aa_start": 598,
"aa_end": null,
"aa_length": 748,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1884,
"cdna_end": null,
"cdna_length": 5030,
"mane_select": "NM_001366673.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638088.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L1",
"gene_hgnc_id": 22205,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Asn525Ser",
"transcript": "ENST00000310974.8",
"protein_id": "ENSP00000308695.4",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 675,
"cds_start": 1574,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 4870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310974.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L1",
"gene_hgnc_id": 22205,
"hgvs_c": "c.755A>G",
"hgvs_p": "p.Asn252Ser",
"transcript": "ENST00000612226.2",
"protein_id": "ENSP00000478865.2",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 402,
"cds_start": 755,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 5492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612226.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L1",
"gene_hgnc_id": 22205,
"hgvs_c": "c.1967A>G",
"hgvs_p": "p.Asn656Ser",
"transcript": "ENST00000944847.1",
"protein_id": "ENSP00000614906.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 806,
"cds_start": 1967,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 5166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944847.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L1",
"gene_hgnc_id": 22205,
"hgvs_c": "c.1886A>G",
"hgvs_p": "p.Asn629Ser",
"transcript": "ENST00000944849.1",
"protein_id": "ENSP00000614908.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 779,
"cds_start": 1886,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 1930,
"cdna_end": null,
"cdna_length": 2558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944849.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L1",
"gene_hgnc_id": 22205,
"hgvs_c": "c.1793A>G",
"hgvs_p": "p.Asn598Ser",
"transcript": "ENST00000928159.1",
"protein_id": "ENSP00000598218.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 758,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1890,
"cdna_end": null,
"cdna_length": 5066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928159.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L1",
"gene_hgnc_id": 22205,
"hgvs_c": "c.1793A>G",
"hgvs_p": "p.Asn598Ser",
"transcript": "ENST00000944845.1",
"protein_id": "ENSP00000614904.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 748,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1881,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944845.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L1",
"gene_hgnc_id": 22205,
"hgvs_c": "c.1673A>G",
"hgvs_p": "p.Asn558Ser",
"transcript": "ENST00000944848.1",
"protein_id": "ENSP00000614907.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 708,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 4819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944848.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L1",
"gene_hgnc_id": 22205,
"hgvs_c": "c.1601A>G",
"hgvs_p": "p.Asn534Ser",
"transcript": "ENST00000944846.1",
"protein_id": "ENSP00000614905.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 684,
"cds_start": 1601,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 4865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944846.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L1",
"gene_hgnc_id": 22205,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Asn525Ser",
"transcript": "NM_015283.2",
"protein_id": "NP_056098.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 675,
"cds_start": 1574,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 4865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015283.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L1",
"gene_hgnc_id": 22205,
"hgvs_c": "c.1556A>G",
"hgvs_p": "p.Asn519Ser",
"transcript": "ENST00000690666.1",
"protein_id": "ENSP00000508728.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 669,
"cds_start": 1556,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 6292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690666.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L1",
"gene_hgnc_id": 22205,
"hgvs_c": "c.1436A>G",
"hgvs_p": "p.Asn479Ser",
"transcript": "ENST00000928160.1",
"protein_id": "ENSP00000598219.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 629,
"cds_start": 1436,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1537,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928160.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L1",
"gene_hgnc_id": 22205,
"hgvs_c": "c.1391A>G",
"hgvs_p": "p.Asn464Ser",
"transcript": "ENST00000685246.1",
"protein_id": "ENSP00000509303.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 614,
"cds_start": 1391,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 6127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685246.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L1",
"gene_hgnc_id": 22205,
"hgvs_c": "c.1706A>G",
"hgvs_p": "p.Asn569Ser",
"transcript": "XM_011515246.4",
"protein_id": "XP_011513548.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 719,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 4943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515246.4"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L1",
"gene_hgnc_id": 22205,
"hgvs_c": "n.713A>G",
"hgvs_p": null,
"transcript": "ENST00000688296.1",
"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": 5448,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000688296.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L1",
"gene_hgnc_id": 22205,
"hgvs_c": "n.*958A>G",
"hgvs_p": null,
"transcript": "ENST00000690503.1",
"protein_id": "ENSP00000509349.1",
"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": 6148,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000690503.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L1",
"gene_hgnc_id": 22205,
"hgvs_c": "n.*958A>G",
"hgvs_p": null,
"transcript": "ENST00000690503.1",
"protein_id": "ENSP00000509349.1",
"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": 6148,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000690503.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000294671",
"gene_hgnc_id": null,
"hgvs_c": "n.107+764T>C",
"hgvs_p": null,
"transcript": "ENST00000725150.1",
"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": 685,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000725150.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000294671",
"gene_hgnc_id": null,
"hgvs_c": "n.127+764T>C",
"hgvs_p": null,
"transcript": "ENST00000725151.1",
"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": 596,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000725151.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000294671",
"gene_hgnc_id": null,
"hgvs_c": "n.98+764T>C",
"hgvs_p": null,
"transcript": "ENST00000725152.1",
"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": 644,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000725152.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000294671",
"gene_hgnc_id": null,
"hgvs_c": "n.96+764T>C",
"hgvs_p": null,
"transcript": "ENST00000725153.1",
"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": 504,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000725153.1"
}
],
"gene_symbol": "DPY19L1",
"gene_hgnc_id": 22205,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07266521453857422,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.103,
"revel_prediction": "Benign",
"alphamissense_score": 0.0696,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.158,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001366673.1",
"gene_symbol": "DPY19L1",
"hgnc_id": 22205,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1793A>G",
"hgvs_p": "p.Asn598Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000725150.1",
"gene_symbol": "ENSG00000294671",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.107+764T>C",
"hgvs_p": null
}
],
"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
}