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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: 16-15720243-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15720243&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 15720243,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001040114.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.4861A>C",
"hgvs_p": "p.Lys1621Gln",
"transcript": "NM_002474.3",
"protein_id": "NP_002465.1",
"transcript_support_level": null,
"aa_start": 1621,
"aa_end": null,
"aa_length": 1972,
"cds_start": 4861,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300036.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002474.3"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.4861A>C",
"hgvs_p": "p.Lys1621Gln",
"transcript": "ENST00000300036.6",
"protein_id": "ENSP00000300036.5",
"transcript_support_level": 1,
"aa_start": 1621,
"aa_end": null,
"aa_length": 1972,
"cds_start": 4861,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002474.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300036.6"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.4882A>C",
"hgvs_p": "p.Lys1628Gln",
"transcript": "NM_001040113.2",
"protein_id": "NP_001035202.1",
"transcript_support_level": null,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1945,
"cds_start": 4882,
"cds_end": null,
"cds_length": 5838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000452625.7",
"biotype": "protein_coding",
"feature": "NM_001040113.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.4882A>C",
"hgvs_p": "p.Lys1628Gln",
"transcript": "ENST00000452625.7",
"protein_id": "ENSP00000407821.2",
"transcript_support_level": 1,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1945,
"cds_start": 4882,
"cds_end": null,
"cds_length": 5838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_001040113.2",
"biotype": "protein_coding",
"feature": "ENST00000452625.7"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.4882A>C",
"hgvs_p": "p.Lys1628Gln",
"transcript": "ENST00000396324.7",
"protein_id": "ENSP00000379616.3",
"transcript_support_level": 1,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1979,
"cds_start": 4882,
"cds_end": null,
"cds_length": 5940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396324.7"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.4861A>C",
"hgvs_p": "p.Lys1621Gln",
"transcript": "ENST00000576790.7",
"protein_id": "ENSP00000458731.1",
"transcript_support_level": 1,
"aa_start": 1621,
"aa_end": null,
"aa_length": 1938,
"cds_start": 4861,
"cds_end": null,
"cds_length": 5817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576790.7"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.948-3948T>G",
"hgvs_p": null,
"transcript": "NM_017668.3",
"protein_id": "NP_060138.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396354.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017668.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.948-3948T>G",
"hgvs_p": null,
"transcript": "ENST00000396354.6",
"protein_id": "ENSP00000379642.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017668.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396354.6"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.948-3948T>G",
"hgvs_p": null,
"transcript": "ENST00000396355.5",
"protein_id": "ENSP00000379643.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396355.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "n.1149A>C",
"hgvs_p": null,
"transcript": "ENST00000571275.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000571275.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.4909A>C",
"hgvs_p": "p.Lys1637Gln",
"transcript": "ENST00000911137.1",
"protein_id": "ENSP00000581196.1",
"transcript_support_level": null,
"aa_start": 1637,
"aa_end": null,
"aa_length": 1988,
"cds_start": 4909,
"cds_end": null,
"cds_length": 5967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911137.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.4900A>C",
"hgvs_p": "p.Lys1634Gln",
"transcript": "ENST00000911136.1",
"protein_id": "ENSP00000581195.1",
"transcript_support_level": null,
"aa_start": 1634,
"aa_end": null,
"aa_length": 1985,
"cds_start": 4900,
"cds_end": null,
"cds_length": 5958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911136.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.4888A>C",
"hgvs_p": "p.Lys1630Gln",
"transcript": "ENST00000963704.1",
"protein_id": "ENSP00000633763.1",
"transcript_support_level": null,
"aa_start": 1630,
"aa_end": null,
"aa_length": 1981,
"cds_start": 4888,
"cds_end": null,
"cds_length": 5946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963704.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.4882A>C",
"hgvs_p": "p.Lys1628Gln",
"transcript": "NM_001040114.2",
"protein_id": "NP_001035203.1",
"transcript_support_level": null,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1979,
"cds_start": 4882,
"cds_end": null,
"cds_length": 5940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040114.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.4882A>C",
"hgvs_p": "p.Lys1628Gln",
"transcript": "ENST00000911133.1",
"protein_id": "ENSP00000581192.1",
"transcript_support_level": null,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1977,
"cds_start": 4882,
"cds_end": null,
"cds_length": 5934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911133.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.4861A>C",
"hgvs_p": "p.Lys1621Gln",
"transcript": "ENST00000713757.1",
"protein_id": "ENSP00000519058.1",
"transcript_support_level": null,
"aa_start": 1621,
"aa_end": null,
"aa_length": 1972,
"cds_start": 4861,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713757.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.4861A>C",
"hgvs_p": "p.Lys1621Gln",
"transcript": "ENST00000911134.1",
"protein_id": "ENSP00000581193.1",
"transcript_support_level": null,
"aa_start": 1621,
"aa_end": null,
"aa_length": 1972,
"cds_start": 4861,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911134.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.4861A>C",
"hgvs_p": "p.Lys1621Gln",
"transcript": "ENST00000911140.1",
"protein_id": "ENSP00000581199.1",
"transcript_support_level": null,
"aa_start": 1621,
"aa_end": null,
"aa_length": 1972,
"cds_start": 4861,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911140.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.4861A>C",
"hgvs_p": "p.Lys1621Gln",
"transcript": "ENST00000963701.1",
"protein_id": "ENSP00000633760.1",
"transcript_support_level": null,
"aa_start": 1621,
"aa_end": null,
"aa_length": 1972,
"cds_start": 4861,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963701.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.4834A>C",
"hgvs_p": "p.Lys1612Gln",
"transcript": "ENST00000963702.1",
"protein_id": "ENSP00000633761.1",
"transcript_support_level": null,
"aa_start": 1612,
"aa_end": null,
"aa_length": 1963,
"cds_start": 4834,
"cds_end": null,
"cds_length": 5892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963702.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.4768A>C",
"hgvs_p": "p.Lys1590Gln",
"transcript": "ENST00000911139.1",
"protein_id": "ENSP00000581198.1",
"transcript_support_level": null,
"aa_start": 1590,
"aa_end": null,
"aa_length": 1941,
"cds_start": 4768,
"cds_end": null,
"cds_length": 5826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911139.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.4768A>C",
"hgvs_p": "p.Lys1590Gln",
"transcript": "ENST00000963703.1",
"protein_id": "ENSP00000633762.1",
"transcript_support_level": null,
"aa_start": 1590,
"aa_end": null,
"aa_length": 1941,
"cds_start": 4768,
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],
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"dbsnp": "rs34321232",
"frequency_reference_population": 0.00014931809,
"hom_count_reference_population": 0,
"allele_count_reference_population": 241,
"gnomad_exomes_af": 0.000151869,
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"gnomad_exomes_ac": 222,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7827918529510498,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.798,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3758,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.928,
"phylop100way_prediction": "Pathogenic",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS1",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "NM_001040114.2",
"gene_symbol": "MYH11",
"hgnc_id": 7569,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.4882A>C",
"hgvs_p": "p.Lys1628Gln"
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017668.3",
"gene_symbol": "NDE1",
"hgnc_id": 17619,
"effects": [
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],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.948-3948T>G",
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}
],
"clinvar_disease": " familial thoracic 4,Aortic aneurysm,Connective tissue disorder,Familial thoracic aortic aneurysm and aortic dissection,Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,Visceral myopathy 2,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:16",
"phenotype_combined": "not specified|Aortic aneurysm, familial thoracic 4|Familial thoracic aortic aneurysm and aortic dissection|Connective tissue disorder|not provided|Visceral myopathy 2;Megacystis-microcolon-intestinal hypoperistalsis syndrome 2;Aortic aneurysm, familial thoracic 4",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}