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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: 1-77962884-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=77962884&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 77962884,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001410804.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"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.1230A>G",
"hgvs_p": "p.Ile410Met",
"transcript": "NM_003902.5",
"protein_id": "NP_003893.2",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 644,
"cds_start": 1230,
"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": "M",
"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.1230A>G",
"hgvs_p": "p.Ile410Met",
"transcript": "ENST00000370768.7",
"protein_id": "ENSP00000359804.2",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 644,
"cds_start": 1230,
"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.1227A>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": "M",
"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.1290A>G",
"hgvs_p": "p.Ile430Met",
"transcript": "NM_001410804.1",
"protein_id": "NP_001397733.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 687,
"cds_start": 1290,
"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": "M",
"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.1290A>G",
"hgvs_p": "p.Ile430Met",
"transcript": "ENST00000421641.2",
"protein_id": "ENSP00000402630.2",
"transcript_support_level": 5,
"aa_start": 430,
"aa_end": null,
"aa_length": 687,
"cds_start": 1290,
"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": "M",
"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.1227A>G",
"hgvs_p": "p.Ile409Met",
"transcript": "NM_001376056.1",
"protein_id": "NP_001362985.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 666,
"cds_start": 1227,
"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": "M",
"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.1227A>G",
"hgvs_p": "p.Ile409Met",
"transcript": "ENST00000703586.1",
"protein_id": "ENSP00000515388.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 666,
"cds_start": 1227,
"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": "M",
"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.1293A>G",
"hgvs_p": "p.Ile431Met",
"transcript": "NM_001303433.2",
"protein_id": "NP_001290362.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 665,
"cds_start": 1293,
"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": "M",
"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.1293A>G",
"hgvs_p": "p.Ile431Met",
"transcript": "ENST00000867294.1",
"protein_id": "ENSP00000537353.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 665,
"cds_start": 1293,
"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": "M",
"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.1290A>G",
"hgvs_p": "p.Ile430Met",
"transcript": "NM_001376055.1",
"protein_id": "NP_001362984.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 664,
"cds_start": 1290,
"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": "M",
"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.1290A>G",
"hgvs_p": "p.Ile430Met",
"transcript": "ENST00000867296.1",
"protein_id": "ENSP00000537355.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 664,
"cds_start": 1290,
"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": "M",
"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.1290A>G",
"hgvs_p": "p.Ile430Met",
"transcript": "ENST00000957403.1",
"protein_id": "ENSP00000627462.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 664,
"cds_start": 1290,
"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": "M",
"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.1230A>G",
"hgvs_p": "p.Ile410Met",
"transcript": "ENST00000370767.5",
"protein_id": "ENSP00000359803.1",
"transcript_support_level": 5,
"aa_start": 410,
"aa_end": null,
"aa_length": 655,
"cds_start": 1230,
"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": "M",
"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.1230A>G",
"hgvs_p": "p.Ile410Met",
"transcript": "ENST00000867292.1",
"protein_id": "ENSP00000537351.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 644,
"cds_start": 1230,
"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": "M",
"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.1227A>G",
"hgvs_p": "p.Ile409Met",
"transcript": "NM_001376057.1",
"protein_id": "NP_001362986.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 643,
"cds_start": 1227,
"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": "M",
"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.1227A>G",
"hgvs_p": "p.Ile409Met",
"transcript": "ENST00000867290.1",
"protein_id": "ENSP00000537349.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 643,
"cds_start": 1227,
"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": "M",
"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.1230A>G",
"hgvs_p": "p.Ile410Met",
"transcript": "ENST00000867291.1",
"protein_id": "ENSP00000537350.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 643,
"cds_start": 1230,
"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": "M",
"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.1227A>G",
"hgvs_p": "p.Ile409Met",
"transcript": "ENST00000867293.1",
"protein_id": "ENSP00000537352.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 643,
"cds_start": 1227,
"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": "M",
"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.1227A>G",
"hgvs_p": "p.Ile409Met",
"transcript": "ENST00000939330.1",
"protein_id": "ENSP00000609389.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 643,
"cds_start": 1227,
"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": "M",
"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.1227A>G",
"hgvs_p": "p.Ile409Met",
"transcript": "ENST00000867298.1",
"protein_id": "ENSP00000537357.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 642,
"cds_start": 1227,
"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": "M",
"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.1221A>G",
"hgvs_p": "p.Ile407Met",
"transcript": "ENST00000939334.1",
"protein_id": "ENSP00000609393.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 641,
"cds_start": 1221,
"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": "M",
"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.1221A>G",
"hgvs_p": "p.Ile407Met",
"transcript": "ENST00000957404.1",
"protein_id": "ENSP00000627463.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 641,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
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],
"gene_symbol": "FUBP1",
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"dbsnp": "rs777259406",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
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"gnomad_exomes_ac": 2,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7794942855834961,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.298,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8048,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.874,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
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"criteria": [
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"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001410804.1",
"gene_symbol": "FUBP1",
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"effects": [
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],
"inheritance_mode": "AD",
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"hgvs_p": "p.Ile430Met"
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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
}