← Back to variant description
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: 1-45004786-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=45004786&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 45004786,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024602.6",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1956G>A",
"hgvs_p": "p.Met652Ile",
"transcript": "NM_024602.6",
"protein_id": "NP_078878.3",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 861,
"cds_start": 1956,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372172.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024602.6"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1956G>A",
"hgvs_p": "p.Met652Ile",
"transcript": "ENST00000372172.5",
"protein_id": "ENSP00000361245.4",
"transcript_support_level": 5,
"aa_start": 652,
"aa_end": null,
"aa_length": 861,
"cds_start": 1956,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024602.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372172.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "n.803G>A",
"hgvs_p": null,
"transcript": "ENST00000486132.5",
"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": "pseudogene",
"feature": "ENST00000486132.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.2097G>A",
"hgvs_p": "p.Met699Ile",
"transcript": "ENST00000875142.1",
"protein_id": "ENSP00000545201.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 908,
"cds_start": 2097,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875142.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.2037G>A",
"hgvs_p": "p.Met679Ile",
"transcript": "ENST00000875144.1",
"protein_id": "ENSP00000545203.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 888,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875144.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1983G>A",
"hgvs_p": "p.Met661Ile",
"transcript": "ENST00000875143.1",
"protein_id": "ENSP00000545202.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 870,
"cds_start": 1983,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875143.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1956G>A",
"hgvs_p": "p.Met652Ile",
"transcript": "ENST00000875134.1",
"protein_id": "ENSP00000545193.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 869,
"cds_start": 1956,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875134.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1980G>A",
"hgvs_p": "p.Met660Ile",
"transcript": "ENST00000875141.1",
"protein_id": "ENSP00000545200.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 869,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875141.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1974G>A",
"hgvs_p": "p.Met658Ile",
"transcript": "ENST00000875139.1",
"protein_id": "ENSP00000545198.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 867,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875139.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1953G>A",
"hgvs_p": "p.Met651Ile",
"transcript": "ENST00000875136.1",
"protein_id": "ENSP00000545195.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 860,
"cds_start": 1953,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875136.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1950G>A",
"hgvs_p": "p.Met650Ile",
"transcript": "ENST00000875137.1",
"protein_id": "ENSP00000545196.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 859,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875137.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1956G>A",
"hgvs_p": "p.Met652Ile",
"transcript": "ENST00000875140.1",
"protein_id": "ENSP00000545199.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 852,
"cds_start": 1956,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875140.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1929G>A",
"hgvs_p": "p.Met643Ile",
"transcript": "ENST00000927793.1",
"protein_id": "ENSP00000597852.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 852,
"cds_start": 1929,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927793.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1923G>A",
"hgvs_p": "p.Met641Ile",
"transcript": "ENST00000875135.1",
"protein_id": "ENSP00000545194.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 850,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875135.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1923G>A",
"hgvs_p": "p.Met641Ile",
"transcript": "ENST00000875145.1",
"protein_id": "ENSP00000545204.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 850,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875145.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1866G>A",
"hgvs_p": "p.Met622Ile",
"transcript": "ENST00000875138.1",
"protein_id": "ENSP00000545197.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 831,
"cds_start": 1866,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875138.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1776G>A",
"hgvs_p": "p.Met592Ile",
"transcript": "ENST00000949668.1",
"protein_id": "ENSP00000619727.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 801,
"cds_start": 1776,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949668.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.786G>A",
"hgvs_p": "p.Met262Ile",
"transcript": "ENST00000372168.7",
"protein_id": "ENSP00000361241.3",
"transcript_support_level": 2,
"aa_start": 262,
"aa_end": null,
"aa_length": 471,
"cds_start": 786,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372168.7"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Met368Ile",
"transcript": "XM_047430487.1",
"protein_id": "XP_047286443.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 577,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430487.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1936-79G>A",
"hgvs_p": null,
"transcript": "ENST00000949667.1",
"protein_id": "ENSP00000619726.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 828,
"cds_start": null,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949667.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "n.523G>A",
"hgvs_p": null,
"transcript": "ENST00000466423.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000466423.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "n.339G>A",
"hgvs_p": null,
"transcript": "ENST00000486296.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000486296.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300507",
"gene_hgnc_id": null,
"hgvs_c": "n.*28C>T",
"hgvs_p": null,
"transcript": "ENST00000772448.1",
"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": "ENST00000772448.1"
}
],
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"dbsnp": "rs1286083240",
"frequency_reference_population": 6.8405257e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84053e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5879387855529785,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.181,
"revel_prediction": "Benign",
"alphamissense_score": 0.7532,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.521,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024602.6",
"gene_symbol": "HECTD3",
"hgnc_id": 26117,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1956G>A",
"hgvs_p": "p.Met652Ile"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000772448.1",
"gene_symbol": "ENSG00000300507",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*28C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}