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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: 16-19706999-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=19706999&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 19706999,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001348527.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1288C>A",
"hgvs_p": "p.Arg430Arg",
"transcript": "NM_001012991.3",
"protein_id": "NP_001013009.2",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 458,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000219837.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012991.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1288C>A",
"hgvs_p": "p.Arg430Arg",
"transcript": "ENST00000219837.12",
"protein_id": "ENSP00000219837.7",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 458,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001012991.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000219837.12"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1468C>A",
"hgvs_p": "p.Arg490Arg",
"transcript": "NM_001348527.2",
"protein_id": "NP_001335456.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 518,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348527.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1288C>A",
"hgvs_p": "p.Arg430Arg",
"transcript": "NM_001348528.2",
"protein_id": "NP_001335457.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 458,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348528.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1288C>A",
"hgvs_p": "p.Arg430Arg",
"transcript": "NM_001348529.2",
"protein_id": "NP_001335458.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 458,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348529.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1288C>A",
"hgvs_p": "p.Arg430Arg",
"transcript": "NM_001348530.2",
"protein_id": "NP_001335459.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 458,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348530.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1288C>A",
"hgvs_p": "p.Arg430Arg",
"transcript": "NM_001348531.2",
"protein_id": "NP_001335460.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 458,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348531.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1288C>A",
"hgvs_p": "p.Arg430Arg",
"transcript": "ENST00000858467.1",
"protein_id": "ENSP00000528526.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 458,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858467.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1288C>A",
"hgvs_p": "p.Arg430Arg",
"transcript": "ENST00000858468.1",
"protein_id": "ENSP00000528527.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 458,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858468.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1288C>A",
"hgvs_p": "p.Arg430Arg",
"transcript": "ENST00000918604.1",
"protein_id": "ENSP00000588663.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 458,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918604.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1288C>A",
"hgvs_p": "p.Arg430Arg",
"transcript": "ENST00000918605.1",
"protein_id": "ENSP00000588664.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 458,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918605.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1288C>A",
"hgvs_p": "p.Arg430Arg",
"transcript": "ENST00000918606.1",
"protein_id": "ENSP00000588665.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 458,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918606.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1288C>A",
"hgvs_p": "p.Arg430Arg",
"transcript": "ENST00000918607.1",
"protein_id": "ENSP00000588666.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 458,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918607.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1288C>A",
"hgvs_p": "p.Arg430Arg",
"transcript": "ENST00000953642.1",
"protein_id": "ENSP00000623701.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 458,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953642.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1219C>A",
"hgvs_p": "p.Arg407Arg",
"transcript": "NM_001348532.2",
"protein_id": "NP_001335461.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 435,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348532.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1219C>A",
"hgvs_p": "p.Arg407Arg",
"transcript": "NM_001348533.2",
"protein_id": "NP_001335462.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 435,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348533.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1219C>A",
"hgvs_p": "p.Arg407Arg",
"transcript": "NM_001348534.2",
"protein_id": "NP_001335463.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 435,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348534.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1219C>A",
"hgvs_p": "p.Arg407Arg",
"transcript": "NM_001348535.2",
"protein_id": "NP_001335464.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 435,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348535.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1219C>A",
"hgvs_p": "p.Arg407Arg",
"transcript": "NM_001348536.2",
"protein_id": "NP_001335465.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 435,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348536.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1219C>A",
"hgvs_p": "p.Arg407Arg",
"transcript": "NM_001348537.2",
"protein_id": "NP_001335466.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 435,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348537.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1210C>A",
"hgvs_p": "p.Arg404Arg",
"transcript": "ENST00000918608.1",
"protein_id": "ENSP00000588667.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 432,
"cds_start": 1210,
"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": "ENST00000918608.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KNOP1",
"gene_hgnc_id": 34404,
"hgvs_c": "c.1141C>A",
"hgvs_p": "p.Arg381Arg",
"transcript": "ENST00000953641.1",
"protein_id": "ENSP00000623700.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 409,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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},
{
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],
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{
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.75,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.401,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001348527.2",
"gene_symbol": "KNOP1",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Arg490Arg"
},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000565916.1",
"gene_symbol": "ENSG00000261312",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.649G>T",
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},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000542027.3",
"gene_symbol": "VPS35L",
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"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1698G>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}