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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: 3-138500549-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=138500549&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 138500549,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001320599.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1387T>C",
"hgvs_p": "p.Phe463Leu",
"transcript": "NM_024491.4",
"protein_id": "NP_077817.2",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 597,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264982.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024491.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"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": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1387T>C",
"hgvs_p": "p.Phe463Leu",
"transcript": "ENST00000264982.8",
"protein_id": "ENSP00000264982.3",
"transcript_support_level": 1,
"aa_start": 463,
"aa_end": null,
"aa_length": 597,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024491.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264982.8"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1387T>C",
"hgvs_p": "p.Phe463Leu",
"transcript": "ENST00000481834.5",
"protein_id": "ENSP00000417465.1",
"transcript_support_level": 1,
"aa_start": 463,
"aa_end": null,
"aa_length": 554,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481834.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1447T>C",
"hgvs_p": "p.Phe483Leu",
"transcript": "ENST00000882531.1",
"protein_id": "ENSP00000552590.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 617,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882531.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1387T>C",
"hgvs_p": "p.Phe463Leu",
"transcript": "NM_001320599.2",
"protein_id": "NP_001307528.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 598,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320599.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1387T>C",
"hgvs_p": "p.Phe463Leu",
"transcript": "NM_001320598.2",
"protein_id": "NP_001307527.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 597,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320598.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1387T>C",
"hgvs_p": "p.Phe463Leu",
"transcript": "ENST00000484888.5",
"protein_id": "ENSP00000419231.1",
"transcript_support_level": 5,
"aa_start": 463,
"aa_end": null,
"aa_length": 597,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484888.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1387T>C",
"hgvs_p": "p.Phe463Leu",
"transcript": "ENST00000882532.1",
"protein_id": "ENSP00000552591.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 597,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882532.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1387T>C",
"hgvs_p": "p.Phe463Leu",
"transcript": "ENST00000882534.1",
"protein_id": "ENSP00000552593.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 597,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882534.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1387T>C",
"hgvs_p": "p.Phe463Leu",
"transcript": "ENST00000882535.1",
"protein_id": "ENSP00000552594.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 597,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882535.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1387T>C",
"hgvs_p": "p.Phe463Leu",
"transcript": "ENST00000923052.1",
"protein_id": "ENSP00000593111.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 597,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923052.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1387T>C",
"hgvs_p": "p.Phe463Leu",
"transcript": "ENST00000923053.1",
"protein_id": "ENSP00000593112.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 597,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923053.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1387T>C",
"hgvs_p": "p.Phe463Leu",
"transcript": "ENST00000968169.1",
"protein_id": "ENSP00000638228.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 597,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968169.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1387T>C",
"hgvs_p": "p.Phe463Leu",
"transcript": "ENST00000968170.1",
"protein_id": "ENSP00000638229.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 597,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968170.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1384T>C",
"hgvs_p": "p.Phe462Leu",
"transcript": "ENST00000923048.1",
"protein_id": "ENSP00000593107.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 596,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923048.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1384T>C",
"hgvs_p": "p.Phe462Leu",
"transcript": "ENST00000923049.1",
"protein_id": "ENSP00000593108.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 596,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923049.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1333T>C",
"hgvs_p": "p.Phe445Leu",
"transcript": "NM_001288964.2",
"protein_id": "NP_001275893.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 579,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288964.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1333T>C",
"hgvs_p": "p.Phe445Leu",
"transcript": "ENST00000474781.5",
"protein_id": "ENSP00000419833.1",
"transcript_support_level": 2,
"aa_start": 445,
"aa_end": null,
"aa_length": 579,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474781.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1330T>C",
"hgvs_p": "p.Phe444Leu",
"transcript": "ENST00000923054.1",
"protein_id": "ENSP00000593113.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 578,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923054.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1327T>C",
"hgvs_p": "p.Phe443Leu",
"transcript": "NM_001288965.2",
"protein_id": "NP_001275894.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 577,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288965.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1387T>C",
"hgvs_p": "p.Phe463Leu",
"transcript": "NM_001288966.2",
"protein_id": "NP_001275895.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 554,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288966.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"hgvs_c": "c.1240T>C",
"hgvs_p": "p.Phe414Leu",
"transcript": "ENST00000882528.1",
"protein_id": "ENSP00000552587.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 548,
"cds_start": 1240,
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"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 373,
"cds_start": 610,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449025.1"
}
],
"gene_symbol": "CEP70",
"gene_hgnc_id": 29972,
"dbsnp": "rs113169450",
"frequency_reference_population": 0.00011194294,
"hom_count_reference_population": 4,
"allele_count_reference_population": 180,
"gnomad_exomes_af": 0.0000803771,
"gnomad_genomes_af": 0.000413592,
"gnomad_exomes_ac": 117,
"gnomad_genomes_ac": 63,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008225470781326294,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.043,
"revel_prediction": "Benign",
"alphamissense_score": 0.2906,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.151,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001320599.2",
"gene_symbol": "CEP70",
"hgnc_id": 29972,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1387T>C",
"hgvs_p": "p.Phe463Leu"
}
],
"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
}