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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: 12-31981416-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=31981416&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 31981416,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018169.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Ser154Asn",
"transcript": "NM_018169.4",
"protein_id": "NP_060639.4",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1747,
"cds_start": 461,
"cds_end": null,
"cds_length": 5244,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 6234,
"mane_select": "ENST00000312561.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018169.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Ser154Asn",
"transcript": "ENST00000312561.9",
"protein_id": "ENSP00000310338.4",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 1747,
"cds_start": 461,
"cds_end": null,
"cds_length": 5244,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 6234,
"mane_select": "NM_018169.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312561.9"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Ser154Asn",
"transcript": "ENST00000913392.1",
"protein_id": "ENSP00000583451.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1747,
"cds_start": 461,
"cds_end": null,
"cds_length": 5244,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 6003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913392.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Ser154Asn",
"transcript": "ENST00000913394.1",
"protein_id": "ENSP00000583453.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1747,
"cds_start": 461,
"cds_end": null,
"cds_length": 5244,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 6344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913394.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Ser154Asn",
"transcript": "ENST00000913395.1",
"protein_id": "ENSP00000583454.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1747,
"cds_start": 461,
"cds_end": null,
"cds_length": 5244,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 6107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913395.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Ser154Asn",
"transcript": "ENST00000913397.1",
"protein_id": "ENSP00000583456.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1747,
"cds_start": 461,
"cds_end": null,
"cds_length": 5244,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 6522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913397.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Ser154Asn",
"transcript": "ENST00000913398.1",
"protein_id": "ENSP00000583457.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1747,
"cds_start": 461,
"cds_end": null,
"cds_length": 5244,
"cdna_start": 930,
"cdna_end": null,
"cdna_length": 6285,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913398.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Ser154Asn",
"transcript": "ENST00000952432.1",
"protein_id": "ENSP00000622491.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1747,
"cds_start": 461,
"cds_end": null,
"cds_length": 5244,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 6374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952432.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Ser154Asn",
"transcript": "ENST00000952433.1",
"protein_id": "ENSP00000622492.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1747,
"cds_start": 461,
"cds_end": null,
"cds_length": 5244,
"cdna_start": 1668,
"cdna_end": null,
"cdna_length": 7012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952433.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Ser154Asn",
"transcript": "ENST00000952434.1",
"protein_id": "ENSP00000622493.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1747,
"cds_start": 461,
"cds_end": null,
"cds_length": 5244,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 6347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952434.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Ser154Asn",
"transcript": "ENST00000952435.1",
"protein_id": "ENSP00000622494.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1747,
"cds_start": 461,
"cds_end": null,
"cds_length": 5244,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 6129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952435.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Ser154Asn",
"transcript": "ENST00000913393.1",
"protein_id": "ENSP00000583452.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1745,
"cds_start": 461,
"cds_end": null,
"cds_length": 5238,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 6240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913393.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Ser154Asn",
"transcript": "ENST00000913396.1",
"protein_id": "ENSP00000583455.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1719,
"cds_start": 461,
"cds_end": null,
"cds_length": 5160,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 6117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913396.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Ser154Asn",
"transcript": "ENST00000381054.3",
"protein_id": "ENSP00000370442.3",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 673,
"cds_start": 461,
"cds_end": null,
"cds_length": 2024,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 2326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381054.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Ser154Asn",
"transcript": "XM_005253405.4",
"protein_id": "XP_005253462.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1747,
"cds_start": 461,
"cds_end": null,
"cds_length": 5244,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 6066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253405.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Ser154Asn",
"transcript": "XM_011520722.2",
"protein_id": "XP_011519024.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1747,
"cds_start": 461,
"cds_end": null,
"cds_length": 5244,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 6643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520722.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Ser154Asn",
"transcript": "XM_017019550.3",
"protein_id": "XP_016875039.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1747,
"cds_start": 461,
"cds_end": null,
"cds_length": 5244,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 6475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019550.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Ser154Asn",
"transcript": "XM_006719099.4",
"protein_id": "XP_006719162.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1676,
"cds_start": 461,
"cds_end": null,
"cds_length": 5031,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 5559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719099.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "c.160+301G>A",
"hgvs_p": null,
"transcript": "ENST00000870365.1",
"protein_id": "ENSP00000540424.1",
"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": 1348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870365.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "n.139-5823G>A",
"hgvs_p": null,
"transcript": "ENST00000397578.7",
"protein_id": null,
"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": 814,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000397578.7"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "n.318-5823G>A",
"hgvs_p": null,
"transcript": "ENST00000535596.5",
"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": 965,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000535596.5"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"hgvs_c": "n.218-10962G>A",
"hgvs_p": null,
"transcript": "ENST00000541981.5",
"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": 674,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000541981.5"
}
],
"gene_symbol": "RESF1",
"gene_hgnc_id": 25559,
"dbsnp": "rs778711349",
"frequency_reference_population": 0.0000037174675,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000205224,
"gnomad_genomes_af": 0.000019713,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02631869912147522,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.043,
"revel_prediction": "Benign",
"alphamissense_score": 0.072,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.563,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_018169.4",
"gene_symbol": "RESF1",
"hgnc_id": 25559,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Ser154Asn"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}