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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: 12-106843913-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=106843913&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 106843913,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001330145.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Ala376Gly",
"transcript": "NM_001330145.2",
"protein_id": "NP_001317074.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 560,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392837.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330145.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Ala376Gly",
"transcript": "ENST00000392837.9",
"protein_id": "ENSP00000376582.4",
"transcript_support_level": 5,
"aa_start": 376,
"aa_end": null,
"aa_length": 560,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001330145.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392837.9"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Ala376Gly",
"transcript": "ENST00000392839.6",
"protein_id": "ENSP00000376583.2",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 520,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392839.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1007C>G",
"hgvs_p": "p.Ala336Gly",
"transcript": "ENST00000355478.6",
"protein_id": "ENSP00000347662.2",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 496,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355478.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "n.1127C>G",
"hgvs_p": null,
"transcript": "ENST00000470628.2",
"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": "retained_intron",
"feature": "ENST00000470628.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1103C>G",
"hgvs_p": "p.Ala368Gly",
"transcript": "NM_001351361.2",
"protein_id": "NP_001338290.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 552,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351361.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1079C>G",
"hgvs_p": "p.Ala360Gly",
"transcript": "NM_001330146.2",
"protein_id": "NP_001317075.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 544,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330146.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Ala376Gly",
"transcript": "NM_001330147.2",
"protein_id": "NP_001317076.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 536,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330147.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Ala376Gly",
"transcript": "NM_018157.4",
"protein_id": "NP_060627.2",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 520,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018157.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1103C>G",
"hgvs_p": "p.Ala368Gly",
"transcript": "NM_001351362.2",
"protein_id": "NP_001338291.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 512,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351362.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1079C>G",
"hgvs_p": "p.Ala360Gly",
"transcript": "NM_001351363.2",
"protein_id": "NP_001338292.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 504,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351363.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.1007C>G",
"hgvs_p": "p.Ala336Gly",
"transcript": "NM_001351364.2",
"protein_id": "NP_001338293.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 496,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351364.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.863C>G",
"hgvs_p": "p.Ala288Gly",
"transcript": "NM_001351366.2",
"protein_id": "NP_001338295.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 472,
"cds_start": 863,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351366.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.863C>G",
"hgvs_p": "p.Ala288Gly",
"transcript": "NM_001351367.2",
"protein_id": "NP_001338296.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 432,
"cds_start": 863,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351367.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.599C>G",
"hgvs_p": "p.Ala200Gly",
"transcript": "ENST00000548914.5",
"protein_id": "ENSP00000447701.1",
"transcript_support_level": 5,
"aa_start": 200,
"aa_end": null,
"aa_length": 274,
"cds_start": 599,
"cds_end": null,
"cds_length": 827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548914.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "c.-164-16355C>G",
"hgvs_p": null,
"transcript": "ENST00000549643.5",
"protein_id": "ENSP00000450396.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 30,
"cds_start": null,
"cds_end": null,
"cds_length": 93,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549643.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "n.1127C>G",
"hgvs_p": null,
"transcript": "ENST00000462949.5",
"protein_id": "ENSP00000435301.1",
"transcript_support_level": 2,
"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": "ENST00000462949.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "n.407C>G",
"hgvs_p": null,
"transcript": "ENST00000470960.1",
"protein_id": "ENSP00000436359.1",
"transcript_support_level": 2,
"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": "ENST00000470960.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "n.1191C>G",
"hgvs_p": null,
"transcript": "NR_147131.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_147131.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "n.1191C>G",
"hgvs_p": null,
"transcript": "NR_147132.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_147132.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "n.1191C>G",
"hgvs_p": null,
"transcript": "NR_147133.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_147133.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "RIC8B",
"gene_hgnc_id": 25555,
"hgvs_c": "n.1191C>G",
"hgvs_p": null,
"transcript": "NR_147134.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_147134.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
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],
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"computational_score_selected": 0.2849215269088745,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.19,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001330145.2",
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"effects": [
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],
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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
}