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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: 1-77962787-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=77962787&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 77962787,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001410804.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "c.1327A>G",
"hgvs_p": "p.Ile443Val",
"transcript": "NM_003902.5",
"protein_id": "NP_003893.2",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 644,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370768.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003902.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "c.1327A>G",
"hgvs_p": "p.Ile443Val",
"transcript": "ENST00000370768.7",
"protein_id": "ENSP00000359804.2",
"transcript_support_level": 1,
"aa_start": 443,
"aa_end": null,
"aa_length": 644,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003902.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370768.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "n.1324A>G",
"hgvs_p": null,
"transcript": "ENST00000294623.8",
"protein_id": "ENSP00000294623.4",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000294623.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Ile463Val",
"transcript": "NM_001410804.1",
"protein_id": "NP_001397733.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 687,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410804.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Ile463Val",
"transcript": "ENST00000421641.2",
"protein_id": "ENSP00000402630.2",
"transcript_support_level": 5,
"aa_start": 463,
"aa_end": null,
"aa_length": 687,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421641.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Ile442Val",
"transcript": "NM_001376056.1",
"protein_id": "NP_001362985.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 666,
"cds_start": 1324,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376056.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Ile442Val",
"transcript": "ENST00000703586.1",
"protein_id": "ENSP00000515388.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 666,
"cds_start": 1324,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703586.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "c.1390A>G",
"hgvs_p": "p.Ile464Val",
"transcript": "NM_001303433.2",
"protein_id": "NP_001290362.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 665,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303433.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "c.1390A>G",
"hgvs_p": "p.Ile464Val",
"transcript": "ENST00000867294.1",
"protein_id": "ENSP00000537353.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 665,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867294.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Ile463Val",
"transcript": "NM_001376055.1",
"protein_id": "NP_001362984.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 664,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376055.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Ile463Val",
"transcript": "ENST00000867296.1",
"protein_id": "ENSP00000537355.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 664,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867296.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Ile463Val",
"transcript": "ENST00000957403.1",
"protein_id": "ENSP00000627462.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 664,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957403.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "c.1327A>G",
"hgvs_p": "p.Ile443Val",
"transcript": "ENST00000370767.5",
"protein_id": "ENSP00000359803.1",
"transcript_support_level": 5,
"aa_start": 443,
"aa_end": null,
"aa_length": 655,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370767.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "c.1327A>G",
"hgvs_p": "p.Ile443Val",
"transcript": "ENST00000867292.1",
"protein_id": "ENSP00000537351.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 644,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867292.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Ile442Val",
"transcript": "NM_001376057.1",
"protein_id": "NP_001362986.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 643,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376057.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Ile442Val",
"transcript": "ENST00000867290.1",
"protein_id": "ENSP00000537349.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 643,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867290.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "c.1327A>G",
"hgvs_p": "p.Ile443Val",
"transcript": "ENST00000867291.1",
"protein_id": "ENSP00000537350.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 643,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867291.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Ile442Val",
"transcript": "ENST00000867293.1",
"protein_id": "ENSP00000537352.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 643,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867293.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Ile442Val",
"transcript": "ENST00000939330.1",
"protein_id": "ENSP00000609389.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 643,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939330.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Ile442Val",
"transcript": "ENST00000867298.1",
"protein_id": "ENSP00000537357.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 642,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867298.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "c.1318A>G",
"hgvs_p": "p.Ile440Val",
"transcript": "ENST00000939334.1",
"protein_id": "ENSP00000609393.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 641,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939334.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP1",
"gene_hgnc_id": 4004,
"hgvs_c": "c.1318A>G",
"hgvs_p": "p.Ile440Val",
"transcript": "ENST00000957404.1",
"protein_id": "ENSP00000627463.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 641,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
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{
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],
"gene_symbol": "FUBP1",
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"dbsnp": "rs751568612",
"frequency_reference_population": 0.000015519852,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000157684,
"gnomad_genomes_af": 0.0000131387,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20727309584617615,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.186,
"revel_prediction": "Benign",
"alphamissense_score": 0.114,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.741,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001410804.1",
"gene_symbol": "FUBP1",
"hgnc_id": 4004,
"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.1387A>G",
"hgvs_p": "p.Ile463Val"
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],
"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
}