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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: 1-156200021-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156200021&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156200021,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001286184.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"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": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Phe58Leu",
"transcript": "NM_014655.4",
"protein_id": "NP_055470.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 314,
"cds_start": 174,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359511.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014655.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"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": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Phe58Leu",
"transcript": "ENST00000359511.5",
"protein_id": "ENSP00000352497.4",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 314,
"cds_start": 174,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014655.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359511.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Phe58Leu",
"transcript": "ENST00000423538.6",
"protein_id": "ENSP00000407560.3",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 322,
"cds_start": 174,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423538.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "n.3817C>G",
"hgvs_p": null,
"transcript": "ENST00000469537.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000469537.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Phe58Leu",
"transcript": "NM_001286184.2",
"protein_id": "NP_001273113.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 322,
"cds_start": 174,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286184.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Phe58Leu",
"transcript": "NM_001377385.1",
"protein_id": "NP_001364314.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 322,
"cds_start": 174,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377385.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Phe58Leu",
"transcript": "ENST00000960306.1",
"protein_id": "ENSP00000630365.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 322,
"cds_start": 174,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960306.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Phe58Leu",
"transcript": "NM_001377386.1",
"protein_id": "NP_001364315.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 314,
"cds_start": 174,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377386.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Phe58Leu",
"transcript": "NM_001377387.1",
"protein_id": "NP_001364316.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 314,
"cds_start": 174,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377387.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Phe58Leu",
"transcript": "NM_001377388.1",
"protein_id": "NP_001364317.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 314,
"cds_start": 174,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377388.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Phe58Leu",
"transcript": "ENST00000882957.1",
"protein_id": "ENSP00000553016.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 314,
"cds_start": 174,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882957.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Phe58Leu",
"transcript": "ENST00000882962.1",
"protein_id": "ENSP00000553021.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 314,
"cds_start": 174,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882962.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Phe58Leu",
"transcript": "ENST00000926780.1",
"protein_id": "ENSP00000596839.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 314,
"cds_start": 174,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926780.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Phe58Leu",
"transcript": "ENST00000882958.1",
"protein_id": "ENSP00000553017.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 297,
"cds_start": 174,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882958.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Phe58Leu",
"transcript": "ENST00000882959.1",
"protein_id": "ENSP00000553018.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 297,
"cds_start": 174,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882959.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Phe58Leu",
"transcript": "ENST00000926781.1",
"protein_id": "ENSP00000596840.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 297,
"cds_start": 174,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926781.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Phe58Leu",
"transcript": "ENST00000882960.1",
"protein_id": "ENSP00000553019.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 248,
"cds_start": 174,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882960.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Phe58Leu",
"transcript": "ENST00000882961.1",
"protein_id": "ENSP00000553020.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 248,
"cds_start": 174,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882961.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Phe58Leu",
"transcript": "NM_001377389.1",
"protein_id": "NP_001364318.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 209,
"cds_start": 174,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377389.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Phe58Leu",
"transcript": "NM_001377390.1",
"protein_id": "NP_001364319.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 209,
"cds_start": 174,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377390.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Phe58Leu",
"transcript": "XM_011510180.2",
"protein_id": "XP_011508482.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 322,
"cds_start": 174,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510180.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.Phe58Leu",
"transcript": "XM_011510181.3",
"protein_id": "XP_011508483.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 322,
"cds_start": 174,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
"gene_symbol": "SLC25A44",
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"dbsnp": "rs149531927",
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"hom_count_reference_population": 0,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09679430723190308,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.381,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4431,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.663,
"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": 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_001286184.2",
"gene_symbol": "SLC25A44",
"hgnc_id": 29036,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.174C>G",
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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
}