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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: 1-33324933-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=33324933&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 33324933,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001385112.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Ala838Thr",
"transcript": "NM_001385109.1",
"protein_id": "NP_001372038.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 859,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683057.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385109.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Ala838Thr",
"transcript": "ENST00000683057.1",
"protein_id": "ENSP00000507877.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 859,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385109.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683057.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.2509G>A",
"hgvs_p": "p.Ala837Thr",
"transcript": "ENST00000257118.5",
"protein_id": "ENSP00000257118.5",
"transcript_support_level": 1,
"aa_start": 837,
"aa_end": null,
"aa_length": 858,
"cds_start": 2509,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257118.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.2425G>A",
"hgvs_p": "p.Ala809Thr",
"transcript": "ENST00000431992.6",
"protein_id": "ENSP00000389436.2",
"transcript_support_level": 1,
"aa_start": 809,
"aa_end": null,
"aa_length": 830,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431992.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Ala302Thr",
"transcript": "ENST00000373418.7",
"protein_id": "ENSP00000362517.3",
"transcript_support_level": 1,
"aa_start": 302,
"aa_end": null,
"aa_length": 323,
"cds_start": 904,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373418.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.2578G>A",
"hgvs_p": "p.Ala860Thr",
"transcript": "NM_001385112.1",
"protein_id": "NP_001372041.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 881,
"cds_start": 2578,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385112.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.2578G>A",
"hgvs_p": "p.Ala860Thr",
"transcript": "ENST00000706360.1",
"protein_id": "ENSP00000516348.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 881,
"cds_start": 2578,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706360.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Ala838Thr",
"transcript": "NM_001385119.1",
"protein_id": "NP_001372048.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 859,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385119.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Ala838Thr",
"transcript": "NM_001385120.1",
"protein_id": "NP_001372049.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 859,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385120.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.2512G>A",
"hgvs_p": "p.Ala838Thr",
"transcript": "ENST00000881545.1",
"protein_id": "ENSP00000551604.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 859,
"cds_start": 2512,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881545.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.2509G>A",
"hgvs_p": "p.Ala837Thr",
"transcript": "NM_198040.3",
"protein_id": "NP_932157.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 858,
"cds_start": 2509,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198040.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.2506G>A",
"hgvs_p": "p.Ala836Thr",
"transcript": "NM_001385121.1",
"protein_id": "NP_001372050.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 857,
"cds_start": 2506,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385121.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.2425G>A",
"hgvs_p": "p.Ala809Thr",
"transcript": "NM_001330488.2",
"protein_id": "NP_001317417.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 830,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330488.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.2425G>A",
"hgvs_p": "p.Ala809Thr",
"transcript": "NM_001385122.1",
"protein_id": "NP_001372051.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 830,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385122.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.2425G>A",
"hgvs_p": "p.Ala809Thr",
"transcript": "ENST00000373422.8",
"protein_id": "ENSP00000362521.4",
"transcript_support_level": 2,
"aa_start": 809,
"aa_end": null,
"aa_length": 830,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373422.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.1786G>A",
"hgvs_p": "p.Ala596Thr",
"transcript": "NM_001385123.1",
"protein_id": "NP_001372052.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 617,
"cds_start": 1786,
"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": "NM_001385123.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Ala302Thr",
"transcript": "NM_004427.4",
"protein_id": "NP_004418.2",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 323,
"cds_start": 904,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004427.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "n.*761G>A",
"hgvs_p": null,
"transcript": "ENST00000467894.5",
"protein_id": "ENSP00000510267.1",
"transcript_support_level": 5,
"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": "ENST00000467894.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "n.*853G>A",
"hgvs_p": null,
"transcript": "ENST00000485928.5",
"protein_id": "ENSP00000510096.1",
"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": "ENST00000485928.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "n.*761G>A",
"hgvs_p": null,
"transcript": "ENST00000467894.5",
"protein_id": "ENSP00000510267.1",
"transcript_support_level": 5,
"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": "ENST00000467894.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHC2",
"gene_hgnc_id": 3183,
"hgvs_c": "n.*853G>A",
"hgvs_p": null,
"transcript": "ENST00000485928.5",
"protein_id": "ENSP00000510096.1",
"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": "ENST00000485928.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000225313",
"gene_hgnc_id": null,
"hgvs_c": "n.214-688C>T",
"hgvs_p": null,
"transcript": "ENST00000457957.2",
"protein_id": null,
"transcript_support_level": 5,
"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,
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{
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"biotype": "pseudogene",
"feature": "ENST00000827938.1"
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],
"gene_symbol": "PHC2",
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"dbsnp": "rs763020224",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000684147,
"gnomad_genomes_af": 0.00000657073,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21585705876350403,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.129,
"revel_prediction": "Benign",
"alphamissense_score": 0.1628,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.684,
"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": 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_001385112.1",
"gene_symbol": "PHC2",
"hgnc_id": 3183,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2578G>A",
"hgvs_p": "p.Ala860Thr"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000827938.1",
"gene_symbol": "ENSG00000225313",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.76-8315C>T",
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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
}