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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: 22-29694750-AGCTCACCTT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29694750&ref=AGCTCACCTT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 29694750,
"ref": "AGCTCACCTT",
"alt": "A",
"effect": "conservative_inframe_deletion,splice_region_variant",
"transcript": "NM_001407060.1",
"consequences": [
{
"aa_ref": "LTLQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1739_1747delTCACCTTGC",
"hgvs_p": "p.Leu580_Leu582del",
"transcript": "NM_000268.4",
"protein_id": "NP_000259.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 595,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338641.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000268.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.*25-1_*32delGCTCACCTT",
"hgvs_p": null,
"transcript": "ENST00000397789.3",
"protein_id": "ENSP00000380891.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397789.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.*10-1_*17delGCTCACCTT",
"hgvs_p": null,
"transcript": "ENST00000361452.8",
"protein_id": "ENSP00000354897.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": null,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361452.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.*10-1_*17delGCTCACCTT",
"hgvs_p": null,
"transcript": "ENST00000361676.8",
"protein_id": "ENSP00000355183.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 548,
"cds_start": null,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361676.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.*10-1_*17delGCTCACCTT",
"hgvs_p": null,
"transcript": "ENST00000353887.8",
"protein_id": "ENSP00000340626.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 507,
"cds_start": null,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353887.8"
},
{
"aa_ref": "KLTL",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1738-1_1745delGCTCACCTT",
"hgvs_p": "p.Leu580fs",
"transcript": "ENST00000338641.10",
"protein_id": "ENSP00000344666.5",
"transcript_support_level": 1,
"aa_start": 580,
"aa_end": null,
"aa_length": 595,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000268.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338641.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"3_prime_UTR_variant",
"intron_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.*25-1_*32delGCTCACCTT",
"hgvs_p": null,
"transcript": "ENST00000397789.3",
"protein_id": "ENSP00000380891.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397789.3"
},
{
"aa_ref": "KLTL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1603-1_1610delGCTCACCTT",
"hgvs_p": "p.Leu535fs",
"transcript": "ENST00000361166.10",
"protein_id": "ENSP00000354529.6",
"transcript_support_level": 1,
"aa_start": 535,
"aa_end": null,
"aa_length": 550,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361166.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"3_prime_UTR_variant",
"intron_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.*10-1_*17delGCTCACCTT",
"hgvs_p": null,
"transcript": "ENST00000361452.8",
"protein_id": "ENSP00000354897.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": null,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361452.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"3_prime_UTR_variant",
"intron_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.*10-1_*17delGCTCACCTT",
"hgvs_p": null,
"transcript": "ENST00000361676.8",
"protein_id": "ENSP00000355183.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 548,
"cds_start": null,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361676.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"3_prime_UTR_variant",
"intron_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.*10-1_*17delGCTCACCTT",
"hgvs_p": null,
"transcript": "ENST00000353887.8",
"protein_id": "ENSP00000340626.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 507,
"cds_start": null,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353887.8"
},
{
"aa_ref": "KLTL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.448-1_455delGCTCACCTT",
"hgvs_p": "p.Leu150fs",
"transcript": "ENST00000413209.6",
"protein_id": "ENSP00000409921.2",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 165,
"cds_start": 448,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413209.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"non_coding_transcript_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.*25-1_*32delGCTCACCTT",
"hgvs_p": null,
"transcript": "ENST00000397789.3",
"protein_id": "ENSP00000380891.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397789.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"non_coding_transcript_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.*10-1_*17delGCTCACCTT",
"hgvs_p": null,
"transcript": "ENST00000361452.8",
"protein_id": "ENSP00000354897.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": null,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361452.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"non_coding_transcript_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.*10-1_*17delGCTCACCTT",
"hgvs_p": null,
"transcript": "ENST00000361676.8",
"protein_id": "ENSP00000355183.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 548,
"cds_start": null,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361676.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"non_coding_transcript_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.*10-1_*17delGCTCACCTT",
"hgvs_p": null,
"transcript": "ENST00000353887.8",
"protein_id": "ENSP00000340626.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 507,
"cds_start": null,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353887.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "n.*94-1_*101delGCTCACCTT",
"hgvs_p": null,
"transcript": "ENST00000432151.5",
"protein_id": "ENSP00000395885.1",
"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": "ENST00000432151.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"3_prime_UTR_variant",
"intron_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "n.*94-1_*101delGCTCACCTT",
"hgvs_p": null,
"transcript": "ENST00000432151.5",
"protein_id": "ENSP00000395885.1",
"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": "ENST00000432151.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.*11_*19delTCACCTTGC",
"hgvs_p": null,
"transcript": "NM_016418.5",
"protein_id": "NP_057502.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016418.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.*26_*34delTCACCTTGC",
"hgvs_p": null,
"transcript": "NM_181832.3",
"protein_id": "NP_861970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181832.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.*10-1_*17delGCTCACCTT",
"hgvs_p": null,
"transcript": "ENST00000672896.1",
"protein_id": "ENSP00000500117.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672896.1"
},
{
"aa_ref": "LTLQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
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"gene_hgnc_id": 7773,
"dbsnp": "rs1060503674",
"frequency_reference_population": 0.0000012394707,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84227e-7,
"gnomad_genomes_af": 0.00000657514,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.726,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001407060.1",
"gene_symbol": "NF2",
"hgnc_id": 7773,
"effects": [
"conservative_inframe_deletion",
"splice_region_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1576_1584delTCACCTTGC",
"hgvs_p": "p.Ser526_Cys528del"
}
],
"clinvar_disease": " type 2,Hereditary cancer-predisposing syndrome,Neurofibromatosis",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Neurofibromatosis, type 2|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}