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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: 17-77402335-AG-CC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=77402335&ref=AG&alt=CC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 77402335,
"ref": "AG",
"alt": "CC",
"effect": "missense_variant",
"transcript": "NM_001113491.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.353_354delAGinsCC",
"hgvs_p": "p.Gln118Pro",
"transcript": "NM_001113491.2",
"protein_id": "NP_001106963.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 586,
"cds_start": 353,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000427177.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113491.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.353_354delAGinsCC",
"hgvs_p": "p.Gln118Pro",
"transcript": "ENST00000427177.6",
"protein_id": "ENSP00000391249.1",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 586,
"cds_start": 353,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001113491.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427177.6"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.299_300delAGinsCC",
"hgvs_p": "p.Gln100Pro",
"transcript": "NM_006640.5",
"protein_id": "NP_006631.2",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 568,
"cds_start": 299,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000329047.13",
"biotype": "protein_coding",
"feature": "NM_006640.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.299_300delAGinsCC",
"hgvs_p": "p.Gln100Pro",
"transcript": "ENST00000329047.13",
"protein_id": "ENSP00000329161.8",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 568,
"cds_start": 299,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_006640.5",
"biotype": "protein_coding",
"feature": "ENST00000329047.13"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.332_333delAGinsCC",
"hgvs_p": "p.Gln111Pro",
"transcript": "ENST00000423034.6",
"protein_id": "ENSP00000405877.1",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 579,
"cds_start": 332,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423034.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.-140_-139delAGinsCC",
"hgvs_p": null,
"transcript": "ENST00000427674.6",
"protein_id": "ENSP00000403194.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": null,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427674.6"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.353_354delAGinsCC",
"hgvs_p": "p.Gln118Pro",
"transcript": "ENST00000873888.1",
"protein_id": "ENSP00000543947.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 585,
"cds_start": 353,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873888.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.353_354delAGinsCC",
"hgvs_p": "p.Gln118Pro",
"transcript": "ENST00000873887.1",
"protein_id": "ENSP00000543946.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 584,
"cds_start": 353,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873887.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.332_333delAGinsCC",
"hgvs_p": "p.Gln111Pro",
"transcript": "NM_001113493.2",
"protein_id": "NP_001106965.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 579,
"cds_start": 332,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113493.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.296_297delAGinsCC",
"hgvs_p": "p.Gln99Pro",
"transcript": "NM_001293695.2",
"protein_id": "NP_001280624.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 567,
"cds_start": 296,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293695.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.296_297delAGinsCC",
"hgvs_p": "p.Gln99Pro",
"transcript": "ENST00000591198.5",
"protein_id": "ENSP00000468406.1",
"transcript_support_level": 2,
"aa_start": 99,
"aa_end": null,
"aa_length": 567,
"cds_start": 296,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591198.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.308_309delAGinsCC",
"hgvs_p": "p.Gln103Pro",
"transcript": "ENST00000589140.1",
"protein_id": "ENSP00000466997.1",
"transcript_support_level": 4,
"aa_start": 103,
"aa_end": null,
"aa_length": 151,
"cds_start": 308,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589140.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.374_375delAGinsCC",
"hgvs_p": "p.Gln125Pro",
"transcript": "ENST00000591934.1",
"protein_id": "ENSP00000468504.1",
"transcript_support_level": 4,
"aa_start": 125,
"aa_end": null,
"aa_length": 150,
"cds_start": 374,
"cds_end": null,
"cds_length": 454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591934.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.308_309delAGinsCC",
"hgvs_p": "p.Gln103Pro",
"transcript": "ENST00000589070.1",
"protein_id": "ENSP00000465332.1",
"transcript_support_level": 3,
"aa_start": 103,
"aa_end": null,
"aa_length": 124,
"cds_start": 308,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589070.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.-140_-139delAGinsCC",
"hgvs_p": null,
"transcript": "NM_001113492.2",
"protein_id": "NP_001106964.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": null,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113492.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.-140_-139delAGinsCC",
"hgvs_p": null,
"transcript": "NM_001113494.1",
"protein_id": "NP_001106966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": null,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113494.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.-140_-139delAGinsCC",
"hgvs_p": null,
"transcript": "ENST00000431235.6",
"protein_id": "ENSP00000406987.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": null,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431235.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.-140_-139delAGinsCC",
"hgvs_p": null,
"transcript": "ENST00000449803.6",
"protein_id": "ENSP00000400181.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": null,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449803.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.-140_-139delAGinsCC",
"hgvs_p": null,
"transcript": "ENST00000588690.6",
"protein_id": "ENSP00000468668.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": null,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588690.6"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.25-221_25-220delAGinsCC",
"hgvs_p": null,
"transcript": "ENST00000590059.5",
"protein_id": "ENSP00000466164.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": null,
"cds_end": null,
"cds_length": 478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590059.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.37-2_37-1delAGinsCC",
"hgvs_p": null,
"transcript": "ENST00000590595.1",
"protein_id": "ENSP00000465026.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 133,
"cds_start": null,
"cds_end": null,
"cds_length": 403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590595.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "n.412_413delAGinsCC",
"hgvs_p": null,
"transcript": "ENST00000586812.1",
"protein_id": null,
"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,
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"cdna_length": null,
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"intron_variant"
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{
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],
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"dbsnp": "rs1555659856",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"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": 5.693,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6,BS2",
"acmg_by_gene": [
{
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"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001113491.2",
"gene_symbol": "SEPTIN9",
"hgnc_id": 7323,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.353_354delAGinsCC",
"hgvs_p": "p.Gln118Pro"
}
],
"clinvar_disease": "Amyotrophic neuralgia,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:2",
"phenotype_combined": "not provided|not specified|Amyotrophic neuralgia",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}