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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: 2-9489887-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=9489887&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 9489887,
"ref": "T",
"alt": "C",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000310823.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.*290A>G",
"hgvs_p": null,
"transcript": "NM_003183.6",
"protein_id": "NP_003174.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 824,
"cds_start": -4,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4391,
"mane_select": "ENST00000310823.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.*290A>G",
"hgvs_p": null,
"transcript": "ENST00000310823.8",
"protein_id": "ENSP00000309968.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 824,
"cds_start": -4,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4391,
"mane_select": "NM_003183.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*2225A>G",
"hgvs_p": null,
"transcript": "ENST00000647610.1",
"protein_id": "ENSP00000497929.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*2295A>G",
"hgvs_p": null,
"transcript": "ENST00000647979.1",
"protein_id": "ENSP00000497542.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.2992A>G",
"hgvs_p": null,
"transcript": "ENST00000648548.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.2835A>G",
"hgvs_p": null,
"transcript": "ENST00000648857.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*2526A>G",
"hgvs_p": null,
"transcript": "ENST00000649227.1",
"protein_id": "ENSP00000497830.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*2546A>G",
"hgvs_p": null,
"transcript": "ENST00000650116.1",
"protein_id": "ENSP00000497592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.2555A>G",
"hgvs_p": null,
"transcript": "ENST00000699315.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*2668A>G",
"hgvs_p": null,
"transcript": "ENST00000699316.1",
"protein_id": "ENSP00000514295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3626,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*4078A>G",
"hgvs_p": null,
"transcript": "ENST00000699317.1",
"protein_id": "ENSP00000514296.1",
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "ADAM17",
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"hgvs_c": "n.5003A>G",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "ADAM17",
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"hgvs_c": "n.1906A>G",
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"aa_start": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "ADAM17",
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"hgvs_c": "n.*2095A>G",
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"transcript": "ENST00000699321.1",
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},
{
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],
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "ADAM17",
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"hgvs_c": "c.*290A>G",
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"transcript": "ENST00000699318.1",
"protein_id": "ENSP00000514297.1",
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},
{
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],
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"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.*290A>G",
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"transcript": "NM_001382777.1",
"protein_id": "NP_001369706.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "c.*290A>G",
"hgvs_p": null,
"transcript": "NM_001382778.1",
"protein_id": "NP_001369707.1",
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"mane_select": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*2225A>G",
"hgvs_p": null,
"transcript": "ENST00000647610.1",
"protein_id": "ENSP00000497929.1",
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},
{
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],
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"intron_rank": null,
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"hgvs_c": "n.*2295A>G",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "ADAM17",
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},
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*2546A>G",
"hgvs_p": null,
"transcript": "ENST00000650116.1",
"protein_id": "ENSP00000497592.1",
"transcript_support_level": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"hgvs_c": "n.*2668A>G",
"hgvs_p": null,
"transcript": "ENST00000699316.1",
"protein_id": "ENSP00000514295.1",
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"aa_start": null,
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},
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"transcript": "NM_001320858.2",
"protein_id": "NP_001307787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": -4,
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"cds_length": 672,
"cdna_start": null,
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"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IAH1",
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"hgvs_c": "c.*1558T>C",
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"transcript": "NM_001320859.2",
"protein_id": "NP_001307788.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": -4,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
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"cdna_length": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IAH1",
"gene_hgnc_id": 27696,
"hgvs_c": "c.*1558T>C",
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"transcript": "NM_001320860.2",
"protein_id": "NP_001307789.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": -4,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IAH1",
"gene_hgnc_id": 27696,
"hgvs_c": "c.*1558T>C",
"hgvs_p": null,
"transcript": "NM_001320863.2",
"protein_id": "NP_001307792.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": -4,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADAM17",
"gene_hgnc_id": 195,
"dbsnp": "rs1130094",
"frequency_reference_population": 0.4308925,
"hom_count_reference_population": 32328,
"allele_count_reference_population": 134990,
"gnomad_exomes_af": 0.444677,
"gnomad_genomes_af": 0.416265,
"gnomad_exomes_ac": 71721,
"gnomad_genomes_ac": 63269,
"gnomad_exomes_homalt": 18022,
"gnomad_genomes_homalt": 14306,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6800000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.303,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000310823.8",
"gene_symbol": "ADAM17",
"hgnc_id": 195,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.*290A>G",
"hgvs_p": null
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000481367.5",
"gene_symbol": "IAH1",
"hgnc_id": 27696,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*63+1495T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}