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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: 8-60862303-G-GGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=60862303&ref=G&alt=GGT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 60862303,
"ref": "G",
"alt": "GGT",
"effect": "frameshift_variant",
"transcript": "NM_017780.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7940_7941dupTG",
"hgvs_p": "p.Pro2648fs",
"transcript": "NM_017780.4",
"protein_id": "NP_060250.2",
"transcript_support_level": null,
"aa_start": 2648,
"aa_end": null,
"aa_length": 2997,
"cds_start": 7942,
"cds_end": null,
"cds_length": 8994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000423902.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017780.4"
},
{
"aa_ref": "P",
"aa_alt": "C?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7940_7941dupTG",
"hgvs_p": "p.Pro2648fs",
"transcript": "ENST00000423902.7",
"protein_id": "ENSP00000392028.1",
"transcript_support_level": 5,
"aa_start": 2648,
"aa_end": null,
"aa_length": 2997,
"cds_start": 7942,
"cds_end": null,
"cds_length": 8994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017780.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423902.7"
},
{
"aa_ref": "P",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.1793_1794dupTG",
"hgvs_p": "p.Pro599fs",
"transcript": "ENST00000524602.5",
"protein_id": "ENSP00000437061.1",
"transcript_support_level": 1,
"aa_start": 599,
"aa_end": null,
"aa_length": 948,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524602.5"
},
{
"aa_ref": "P",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7973_7974dupTG",
"hgvs_p": "p.Pro2659fs",
"transcript": "ENST00000933299.1",
"protein_id": "ENSP00000603358.1",
"transcript_support_level": null,
"aa_start": 2659,
"aa_end": null,
"aa_length": 3008,
"cds_start": 7975,
"cds_end": null,
"cds_length": 9027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933299.1"
},
{
"aa_ref": "P",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7940_7941dupTG",
"hgvs_p": "p.Pro2648fs",
"transcript": "ENST00000933300.1",
"protein_id": "ENSP00000603359.1",
"transcript_support_level": null,
"aa_start": 2648,
"aa_end": null,
"aa_length": 2997,
"cds_start": 7942,
"cds_end": null,
"cds_length": 8994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933300.1"
},
{
"aa_ref": "P",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7907_7908dupTG",
"hgvs_p": "p.Pro2637fs",
"transcript": "ENST00000933298.1",
"protein_id": "ENSP00000603357.1",
"transcript_support_level": null,
"aa_start": 2637,
"aa_end": null,
"aa_length": 2986,
"cds_start": 7909,
"cds_end": null,
"cds_length": 8961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933298.1"
},
{
"aa_ref": "P",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.1793_1794dupTG",
"hgvs_p": "p.Pro599fs",
"transcript": "NM_001316690.1",
"protein_id": "NP_001303619.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 948,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316690.1"
},
{
"aa_ref": "P",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.8030_8031dupTG",
"hgvs_p": "p.Pro2678fs",
"transcript": "XM_011517553.3",
"protein_id": "XP_011515855.1",
"transcript_support_level": null,
"aa_start": 2678,
"aa_end": null,
"aa_length": 3027,
"cds_start": 8032,
"cds_end": null,
"cds_length": 9084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517553.3"
},
{
"aa_ref": "P",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.8030_8031dupTG",
"hgvs_p": "p.Pro2678fs",
"transcript": "XM_011517554.4",
"protein_id": "XP_011515856.1",
"transcript_support_level": null,
"aa_start": 2678,
"aa_end": null,
"aa_length": 3027,
"cds_start": 8032,
"cds_end": null,
"cds_length": 9084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517554.4"
},
{
"aa_ref": "P",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.8030_8031dupTG",
"hgvs_p": "p.Pro2678fs",
"transcript": "XM_017013612.2",
"protein_id": "XP_016869101.1",
"transcript_support_level": null,
"aa_start": 2678,
"aa_end": null,
"aa_length": 3027,
"cds_start": 8032,
"cds_end": null,
"cds_length": 9084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013612.2"
},
{
"aa_ref": "P",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.8027_8028dupTG",
"hgvs_p": "p.Pro2677fs",
"transcript": "XM_011517555.3",
"protein_id": "XP_011515857.1",
"transcript_support_level": null,
"aa_start": 2677,
"aa_end": null,
"aa_length": 3026,
"cds_start": 8029,
"cds_end": null,
"cds_length": 9081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517555.3"
},
{
"aa_ref": "P",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7937_7938dupTG",
"hgvs_p": "p.Pro2647fs",
"transcript": "XM_017013613.2",
"protein_id": "XP_016869102.1",
"transcript_support_level": null,
"aa_start": 2647,
"aa_end": null,
"aa_length": 2996,
"cds_start": 7939,
"cds_end": null,
"cds_length": 8991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013613.2"
},
{
"aa_ref": "P",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7808_7809dupTG",
"hgvs_p": "p.Pro2604fs",
"transcript": "XM_047421945.1",
"protein_id": "XP_047277901.1",
"transcript_support_level": null,
"aa_start": 2604,
"aa_end": null,
"aa_length": 2953,
"cds_start": 7810,
"cds_end": null,
"cds_length": 8862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421945.1"
},
{
"aa_ref": "P",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7805_7806dupTG",
"hgvs_p": "p.Pro2603fs",
"transcript": "XM_047421946.1",
"protein_id": "XP_047277902.1",
"transcript_support_level": null,
"aa_start": 2603,
"aa_end": null,
"aa_length": 2952,
"cds_start": 7807,
"cds_end": null,
"cds_length": 8859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421946.1"
},
{
"aa_ref": "P",
"aa_alt": "C?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7715_7716dupTG",
"hgvs_p": "p.Pro2573fs",
"transcript": "XM_047421947.1",
"protein_id": "XP_047277903.1",
"transcript_support_level": null,
"aa_start": 2573,
"aa_end": null,
"aa_length": 2922,
"cds_start": 7717,
"cds_end": null,
"cds_length": 8769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421947.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.362_363dupTG",
"hgvs_p": null,
"transcript": "ENST00000532149.1",
"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,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000532149.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.1402_1403dupTG",
"hgvs_p": null,
"transcript": "ENST00000618450.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000618450.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.1116_1117dupTG",
"hgvs_p": null,
"transcript": "ENST00000695850.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000695850.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.320_321dupTG",
"hgvs_p": null,
"transcript": "ENST00000695851.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000695851.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.*999_*1000dupTG",
"hgvs_p": null,
"transcript": "ENST00000695853.1",
"protein_id": "ENSP00000512218.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695853.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.*999_*1000dupTG",
"hgvs_p": null,
"transcript": "ENST00000695853.1",
"protein_id": "ENSP00000512218.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695853.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.-228_-227insGT",
"hgvs_p": null,
"transcript": "ENST00000528280.1",
"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,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000528280.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.-247_-246insGT",
"hgvs_p": null,
"transcript": "ENST00000695852.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000695852.1"
}
],
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"dbsnp": "rs797045473",
"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": 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": 9.999,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_017780.4",
"gene_symbol": "CHD7",
"hgnc_id": 20626,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.7940_7941dupTG",
"hgvs_p": "p.Pro2648fs"
}
],
"clinvar_disease": "CHARGE syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "CHARGE syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}