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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: 7-130404666-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=130404666&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 130404666,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018718.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ala107Gly",
"transcript": "NM_018718.3",
"protein_id": "NP_061188.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 373,
"cds_start": 320,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000223208.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018718.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ala107Gly",
"transcript": "ENST00000223208.10",
"protein_id": "ENSP00000223208.4",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 373,
"cds_start": 320,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018718.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000223208.10"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ala107Gly",
"transcript": "ENST00000343969.10",
"protein_id": "ENSP00000342738.6",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 304,
"cds_start": 320,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343969.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "n.*492C>G",
"hgvs_p": null,
"transcript": "ENST00000484549.6",
"protein_id": "ENSP00000419078.2",
"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": "ENST00000484549.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "n.*492C>G",
"hgvs_p": null,
"transcript": "ENST00000484549.6",
"protein_id": "ENSP00000419078.2",
"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": "ENST00000484549.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.365C>G",
"hgvs_p": "p.Ala122Gly",
"transcript": "ENST00000675138.1",
"protein_id": "ENSP00000501597.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 388,
"cds_start": 365,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675138.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ala107Gly",
"transcript": "ENST00000676243.1",
"protein_id": "ENSP00000501717.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 376,
"cds_start": 320,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676243.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.311C>G",
"hgvs_p": "p.Ala104Gly",
"transcript": "ENST00000541543.6",
"protein_id": "ENSP00000445888.2",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 370,
"cds_start": 311,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541543.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ala107Gly",
"transcript": "ENST00000675935.1",
"protein_id": "ENSP00000501731.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 370,
"cds_start": 320,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675935.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.281C>G",
"hgvs_p": "p.Ala94Gly",
"transcript": "ENST00000675803.1",
"protein_id": "ENSP00000502477.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 360,
"cds_start": 281,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675803.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.281C>G",
"hgvs_p": "p.Ala94Gly",
"transcript": "ENST00000676312.1",
"protein_id": "ENSP00000502312.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 360,
"cds_start": 281,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676312.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.272C>G",
"hgvs_p": "p.Ala91Gly",
"transcript": "ENST00000675168.1",
"protein_id": "ENSP00000501563.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 357,
"cds_start": 272,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675168.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.533C>G",
"hgvs_p": "p.Ala178Gly",
"transcript": "ENST00000471201.6",
"protein_id": "ENSP00000417463.2",
"transcript_support_level": 4,
"aa_start": 178,
"aa_end": null,
"aa_length": 322,
"cds_start": 533,
"cds_end": null,
"cds_length": 970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471201.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ala107Gly",
"transcript": "ENST00000480206.2",
"protein_id": "ENSP00000502099.1",
"transcript_support_level": 3,
"aa_start": 107,
"aa_end": null,
"aa_length": 312,
"cds_start": 320,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000480206.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ala107Gly",
"transcript": "ENST00000675649.1",
"protein_id": "ENSP00000502385.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 312,
"cds_start": 320,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675649.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ala107Gly",
"transcript": "NM_001257158.2",
"protein_id": "NP_001244087.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 301,
"cds_start": 320,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257158.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ala107Gly",
"transcript": "ENST00000675596.1",
"protein_id": "ENSP00000501735.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 301,
"cds_start": 320,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675596.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.272C>G",
"hgvs_p": "p.Ala91Gly",
"transcript": "NM_001257159.2",
"protein_id": "NP_001244088.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 285,
"cds_start": 272,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257159.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.272C>G",
"hgvs_p": "p.Ala91Gly",
"transcript": "ENST00000675962.1",
"protein_id": "ENSP00000502478.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 285,
"cds_start": 272,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675962.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.215C>G",
"hgvs_p": "p.Ala72Gly",
"transcript": "ENST00000472739.6",
"protein_id": "ENSP00000417593.2",
"transcript_support_level": 5,
"aa_start": 72,
"aa_end": null,
"aa_length": 216,
"cds_start": 215,
"cds_end": null,
"cds_length": 652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472739.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.215C>G",
"hgvs_p": "p.Ala72Gly",
"transcript": "ENST00000475282.6",
"protein_id": "ENSP00000418363.2",
"transcript_support_level": 4,
"aa_start": 72,
"aa_end": null,
"aa_length": 216,
"cds_start": 215,
"cds_end": null,
"cds_length": 652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475282.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP41",
"gene_hgnc_id": 12370,
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ala107Gly",
"transcript": "ENST00000934756.1",
"protein_id": "ENSP00000604815.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 164,
"cds_start": 320,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934756.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
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"gnomad_exomes_ac": 646,
"gnomad_genomes_ac": 28,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007877975702285767,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.14,
"revel_prediction": "Benign",
"alphamissense_score": 0.081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.265,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_018718.3",
"gene_symbol": "CEP41",
"hgnc_id": 12370,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.320C>G",
"hgvs_p": "p.Ala107Gly"
}
],
"clinvar_disease": "Familial Autism Spectrum Disorder,Joubert syndrome 15,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 B:1",
"phenotype_combined": "not provided|Joubert syndrome 15|Familial Autism Spectrum Disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}