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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: 17-8513561-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8513561&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8513561,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000360416.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.2722G>T",
"hgvs_p": "p.Glu908*",
"transcript": "NM_001256012.3",
"protein_id": "NP_001242941.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 2007,
"cds_start": 2722,
"cds_end": null,
"cds_length": 6024,
"cdna_start": 2825,
"cdna_end": null,
"cdna_length": 7707,
"mane_select": "ENST00000360416.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.2722G>T",
"hgvs_p": "p.Glu908*",
"transcript": "ENST00000360416.8",
"protein_id": "ENSP00000353590.4",
"transcript_support_level": 1,
"aa_start": 908,
"aa_end": null,
"aa_length": 2007,
"cds_start": 2722,
"cds_end": null,
"cds_length": 6024,
"cdna_start": 2825,
"cdna_end": null,
"cdna_length": 7707,
"mane_select": "NM_001256012.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.2656G>T",
"hgvs_p": "p.Glu886*",
"transcript": "ENST00000379980.8",
"protein_id": "ENSP00000369315.5",
"transcript_support_level": 1,
"aa_start": 886,
"aa_end": null,
"aa_length": 1985,
"cds_start": 2656,
"cds_end": null,
"cds_length": 5958,
"cdna_start": 2795,
"cdna_end": null,
"cdna_length": 7694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.2629G>T",
"hgvs_p": "p.Glu877*",
"transcript": "ENST00000269243.8",
"protein_id": "ENSP00000269243.4",
"transcript_support_level": 1,
"aa_start": 877,
"aa_end": null,
"aa_length": 1976,
"cds_start": 2629,
"cds_end": null,
"cds_length": 5931,
"cdna_start": 2768,
"cdna_end": null,
"cdna_length": 7662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.2722G>T",
"hgvs_p": "p.Glu908*",
"transcript": "ENST00000686654.1",
"protein_id": "ENSP00000508862.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 2007,
"cds_start": 2722,
"cds_end": null,
"cds_length": 6024,
"cdna_start": 2891,
"cdna_end": null,
"cdna_length": 7782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.2722G>T",
"hgvs_p": "p.Glu908*",
"transcript": "ENST00000688902.1",
"protein_id": "ENSP00000509091.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 2007,
"cds_start": 2722,
"cds_end": null,
"cds_length": 6024,
"cdna_start": 3209,
"cdna_end": null,
"cdna_length": 8100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.2722G>T",
"hgvs_p": "p.Glu908*",
"transcript": "ENST00000693441.1",
"protein_id": "ENSP00000509241.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 2007,
"cds_start": 2722,
"cds_end": null,
"cds_length": 6024,
"cdna_start": 2947,
"cdna_end": null,
"cdna_length": 7838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.2659G>T",
"hgvs_p": "p.Glu887*",
"transcript": "NM_001375266.1",
"protein_id": "NP_001362195.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 1986,
"cds_start": 2659,
"cds_end": null,
"cds_length": 5961,
"cdna_start": 2762,
"cdna_end": null,
"cdna_length": 7656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.2659G>T",
"hgvs_p": "p.Glu887*",
"transcript": "ENST00000684843.1",
"protein_id": "ENSP00000509695.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 1986,
"cds_start": 2659,
"cds_end": null,
"cds_length": 5961,
"cdna_start": 3145,
"cdna_end": null,
"cdna_length": 8036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.2659G>T",
"hgvs_p": "p.Glu887*",
"transcript": "ENST00000692526.1",
"protein_id": "ENSP00000510471.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 1986,
"cds_start": 2659,
"cds_end": null,
"cds_length": 5961,
"cdna_start": 2918,
"cdna_end": null,
"cdna_length": 7809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.2656G>T",
"hgvs_p": "p.Glu886*",
"transcript": "NM_001256095.2",
"protein_id": "NP_001243024.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 1985,
"cds_start": 2656,
"cds_end": null,
"cds_length": 5958,
"cdna_start": 2759,
"cdna_end": null,
"cdna_length": 7641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.2656G>T",
"hgvs_p": "p.Glu886*",
"transcript": "ENST00000687178.1",
"protein_id": "ENSP00000509748.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 1985,
"cds_start": 2656,
"cds_end": null,
"cds_length": 5958,
"cdna_start": 3184,
"cdna_end": null,
"cdna_length": 8075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.2629G>T",
"hgvs_p": "p.Glu877*",
"transcript": "NM_005964.5",
"protein_id": "NP_005955.3",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 1976,
"cds_start": 2629,
"cds_end": null,
"cds_length": 5931,
"cdna_start": 2732,
"cdna_end": null,
"cdna_length": 7614,
"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": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "n.2858G>T",
"hgvs_p": null,
"transcript": "ENST00000465458.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 4236,
"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": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "n.*1926G>T",
"hgvs_p": null,
"transcript": "ENST00000685418.1",
"protein_id": "ENSP00000510761.1",
"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": 7516,
"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": 23,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "n.2965G>T",
"hgvs_p": null,
"transcript": "ENST00000686521.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 9134,
"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": 23,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "n.2965G>T",
"hgvs_p": null,
"transcript": "ENST00000686956.1",
"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": 6510,
"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": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "n.*2004G>T",
"hgvs_p": null,
"transcript": "ENST00000688497.1",
"protein_id": "ENSP00000509831.1",
"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": 7677,
"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": 23,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "n.2965G>T",
"hgvs_p": null,
"transcript": "ENST00000691566.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 10573,
"mane_select": null,
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"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": 23,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "n.2965G>T",
"hgvs_p": null,
"transcript": "ENST00000692077.1",
"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": 5974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "n.*1926G>T",
"hgvs_p": null,
"transcript": "ENST00000685418.1",
"protein_id": "ENSP00000510761.1",
"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": 7516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "n.*2004G>T",
"hgvs_p": null,
"transcript": "ENST00000688497.1",
"protein_id": "ENSP00000509831.1",
"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": 7677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC102724262",
"gene_hgnc_id": null,
"hgvs_c": "n.990-151C>A",
"hgvs_p": null,
"transcript": "XR_001752779.2",
"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": 1112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LOC102724262",
"gene_hgnc_id": null,
"hgvs_c": "n.1847-151C>A",
"hgvs_p": null,
"transcript": "XR_934210.3",
"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": 1969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"dbsnp": "rs727504230",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"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": 0.6600000262260437,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000360416.8",
"gene_symbol": "MYH10",
"hgnc_id": 7568,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2722G>T",
"hgvs_p": "p.Glu908*"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "XR_934210.3",
"gene_symbol": "LOC102724262",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1847-151C>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}