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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: 22-36282729-TC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=36282729&ref=TC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 36282729,
"ref": "TC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_002473.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5821delG",
"hgvs_p": "p.Asp1941fs",
"transcript": "NM_002473.6",
"protein_id": "NP_002464.1",
"transcript_support_level": null,
"aa_start": 1941,
"aa_end": null,
"aa_length": 1960,
"cds_start": 5821,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 6001,
"cdna_end": null,
"cdna_length": 7451,
"mane_select": "ENST00000216181.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002473.6"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5821delG",
"hgvs_p": "p.Asp1941fs",
"transcript": "ENST00000216181.11",
"protein_id": "ENSP00000216181.6",
"transcript_support_level": 1,
"aa_start": 1941,
"aa_end": null,
"aa_length": 1960,
"cds_start": 5821,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 6001,
"cdna_end": null,
"cdna_length": 7451,
"mane_select": "NM_002473.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216181.11"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5884delG",
"hgvs_p": "p.Asp1962fs",
"transcript": "ENST00000685801.1",
"protein_id": "ENSP00000510688.1",
"transcript_support_level": null,
"aa_start": 1962,
"aa_end": null,
"aa_length": 1981,
"cds_start": 5884,
"cds_end": null,
"cds_length": 5946,
"cdna_start": 6098,
"cdna_end": null,
"cdna_length": 7536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685801.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5884delG",
"hgvs_p": "p.Asp1962fs",
"transcript": "ENST00000955568.1",
"protein_id": "ENSP00000625627.1",
"transcript_support_level": null,
"aa_start": 1962,
"aa_end": null,
"aa_length": 1981,
"cds_start": 5884,
"cds_end": null,
"cds_length": 5946,
"cdna_start": 6057,
"cdna_end": null,
"cdna_length": 7504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955568.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5869delG",
"hgvs_p": "p.Asp1957fs",
"transcript": "ENST00000955563.1",
"protein_id": "ENSP00000625622.1",
"transcript_support_level": null,
"aa_start": 1957,
"aa_end": null,
"aa_length": 1976,
"cds_start": 5869,
"cds_end": null,
"cds_length": 5931,
"cdna_start": 6048,
"cdna_end": null,
"cdna_length": 7497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955563.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5860delG",
"hgvs_p": "p.Asp1954fs",
"transcript": "ENST00000859030.1",
"protein_id": "ENSP00000529089.1",
"transcript_support_level": null,
"aa_start": 1954,
"aa_end": null,
"aa_length": 1973,
"cds_start": 5860,
"cds_end": null,
"cds_length": 5922,
"cdna_start": 6080,
"cdna_end": null,
"cdna_length": 7531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859030.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5857delG",
"hgvs_p": "p.Asp1953fs",
"transcript": "ENST00000955566.1",
"protein_id": "ENSP00000625625.1",
"transcript_support_level": null,
"aa_start": 1953,
"aa_end": null,
"aa_length": 1972,
"cds_start": 5857,
"cds_end": null,
"cds_length": 5919,
"cdna_start": 6034,
"cdna_end": null,
"cdna_length": 6220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955566.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5821delG",
"hgvs_p": "p.Asp1941fs",
"transcript": "ENST00000859032.1",
"protein_id": "ENSP00000529091.1",
"transcript_support_level": null,
"aa_start": 1941,
"aa_end": null,
"aa_length": 1960,
"cds_start": 5821,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 5885,
"cdna_end": null,
"cdna_length": 7335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859032.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5821delG",
"hgvs_p": "p.Asp1941fs",
"transcript": "ENST00000859033.1",
"protein_id": "ENSP00000529092.1",
"transcript_support_level": null,
"aa_start": 1941,
"aa_end": null,
"aa_length": 1960,
"cds_start": 5821,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 5916,
"cdna_end": null,
"cdna_length": 7001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859033.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5821delG",
"hgvs_p": "p.Asp1941fs",
"transcript": "ENST00000859034.1",
"protein_id": "ENSP00000529093.1",
"transcript_support_level": null,
"aa_start": 1941,
"aa_end": null,
"aa_length": 1960,
"cds_start": 5821,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 5971,
"cdna_end": null,
"cdna_length": 7419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859034.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5821delG",
"hgvs_p": "p.Asp1941fs",
"transcript": "ENST00000859035.1",
"protein_id": "ENSP00000529094.1",
"transcript_support_level": null,
"aa_start": 1941,
"aa_end": null,
"aa_length": 1960,
"cds_start": 5821,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 6115,
"cdna_end": null,
"cdna_length": 7563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859035.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5821delG",
"hgvs_p": "p.Asp1941fs",
"transcript": "ENST00000859036.1",
"protein_id": "ENSP00000529095.1",
"transcript_support_level": null,
"aa_start": 1941,
"aa_end": null,
"aa_length": 1960,
"cds_start": 5821,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 5996,
"cdna_end": null,
"cdna_length": 7446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859036.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5821delG",
"hgvs_p": "p.Asp1941fs",
"transcript": "ENST00000859037.1",
"protein_id": "ENSP00000529096.1",
"transcript_support_level": null,
"aa_start": 1941,
"aa_end": null,
"aa_length": 1960,
"cds_start": 5821,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 6093,
"cdna_end": null,
"cdna_length": 7172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859037.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5821delG",
"hgvs_p": "p.Asp1941fs",
"transcript": "ENST00000955567.1",
"protein_id": "ENSP00000625626.1",
"transcript_support_level": null,
"aa_start": 1941,
"aa_end": null,
"aa_length": 1960,
"cds_start": 5821,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 5967,
"cdna_end": null,
"cdna_length": 7418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955567.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5818delG",
"hgvs_p": "p.Asp1940fs",
"transcript": "ENST00000955564.1",
"protein_id": "ENSP00000625623.1",
"transcript_support_level": null,
"aa_start": 1940,
"aa_end": null,
"aa_length": 1959,
"cds_start": 5818,
"cds_end": null,
"cds_length": 5880,
"cdna_start": 5997,
"cdna_end": null,
"cdna_length": 7446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955564.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5815delG",
"hgvs_p": "p.Asp1939fs",
"transcript": "ENST00000927179.1",
"protein_id": "ENSP00000597238.1",
"transcript_support_level": null,
"aa_start": 1939,
"aa_end": null,
"aa_length": 1958,
"cds_start": 5815,
"cds_end": null,
"cds_length": 5877,
"cdna_start": 5993,
"cdna_end": null,
"cdna_length": 7078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927179.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5815delG",
"hgvs_p": "p.Asp1939fs",
"transcript": "ENST00000955562.1",
"protein_id": "ENSP00000625621.1",
"transcript_support_level": null,
"aa_start": 1939,
"aa_end": null,
"aa_length": 1958,
"cds_start": 5815,
"cds_end": null,
"cds_length": 5877,
"cdna_start": 6036,
"cdna_end": null,
"cdna_length": 7485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955562.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5812delG",
"hgvs_p": "p.Asp1938fs",
"transcript": "ENST00000955565.1",
"protein_id": "ENSP00000625624.1",
"transcript_support_level": null,
"aa_start": 1938,
"aa_end": null,
"aa_length": 1957,
"cds_start": 5812,
"cds_end": null,
"cds_length": 5874,
"cdna_start": 5972,
"cdna_end": null,
"cdna_length": 7418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955565.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.5809delG",
"hgvs_p": "p.Asp1937fs",
"transcript": "ENST00000859031.1",
"protein_id": "ENSP00000529090.1",
"transcript_support_level": null,
"aa_start": 1937,
"aa_end": null,
"aa_length": 1956,
"cds_start": 5809,
"cds_end": null,
"cds_length": 5871,
"cdna_start": 5989,
"cdna_end": null,
"cdna_length": 7439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859031.1"
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.2803delG",
"hgvs_p": "p.Asp935fs",
"transcript": "ENST00000927178.1",
"protein_id": "ENSP00000597237.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 954,
"cds_start": 2803,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 3023,
"cdna_end": null,
"cdna_length": 4470,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927178.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "n.2254delG",
"hgvs_p": null,
"transcript": "ENST00000685708.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3687,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000685708.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "n.1157delG",
"hgvs_p": null,
"transcript": "ENST00000690244.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000690244.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "n.6116delG",
"hgvs_p": null,
"transcript": "ENST00000691109.1",
"protein_id": null,
"transcript_support_level": null,
"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": 7554,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000691109.1"
}
],
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"dbsnp": "rs587776808",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.493,
"phylop100way_prediction": "Uncertain_significance",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002473.6",
"gene_symbol": "MYH9",
"hgnc_id": 7579,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5821delG",
"hgvs_p": "p.Asp1941fs"
}
],
"clinvar_disease": "Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}