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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: 1-45006064-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=45006064&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 45006064,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024602.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1778G>T",
"hgvs_p": "p.Arg593Leu",
"transcript": "NM_024602.6",
"protein_id": "NP_078878.3",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 861,
"cds_start": 1778,
"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": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1778G>T",
"hgvs_p": "p.Arg593Leu",
"transcript": "ENST00000372172.5",
"protein_id": "ENSP00000361245.4",
"transcript_support_level": 5,
"aa_start": 593,
"aa_end": null,
"aa_length": 861,
"cds_start": 1778,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1919G>T",
"hgvs_p": "p.Arg640Leu",
"transcript": "ENST00000875142.1",
"protein_id": "ENSP00000545201.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 908,
"cds_start": 1919,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1859G>T",
"hgvs_p": "p.Arg620Leu",
"transcript": "ENST00000875144.1",
"protein_id": "ENSP00000545203.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 888,
"cds_start": 1859,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1805G>T",
"hgvs_p": "p.Arg602Leu",
"transcript": "ENST00000875143.1",
"protein_id": "ENSP00000545202.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 870,
"cds_start": 1805,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1778G>T",
"hgvs_p": "p.Arg593Leu",
"transcript": "ENST00000875134.1",
"protein_id": "ENSP00000545193.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 869,
"cds_start": 1778,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1802G>T",
"hgvs_p": "p.Arg601Leu",
"transcript": "ENST00000875141.1",
"protein_id": "ENSP00000545200.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 869,
"cds_start": 1802,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1796G>T",
"hgvs_p": "p.Arg599Leu",
"transcript": "ENST00000875139.1",
"protein_id": "ENSP00000545198.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 867,
"cds_start": 1796,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1775G>T",
"hgvs_p": "p.Arg592Leu",
"transcript": "ENST00000875136.1",
"protein_id": "ENSP00000545195.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 860,
"cds_start": 1775,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1772G>T",
"hgvs_p": "p.Arg591Leu",
"transcript": "ENST00000875137.1",
"protein_id": "ENSP00000545196.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 859,
"cds_start": 1772,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1778G>T",
"hgvs_p": "p.Arg593Leu",
"transcript": "ENST00000875140.1",
"protein_id": "ENSP00000545199.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 852,
"cds_start": 1778,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1751G>T",
"hgvs_p": "p.Arg584Leu",
"transcript": "ENST00000927793.1",
"protein_id": "ENSP00000597852.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 852,
"cds_start": 1751,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1745G>T",
"hgvs_p": "p.Arg582Leu",
"transcript": "ENST00000875135.1",
"protein_id": "ENSP00000545194.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 850,
"cds_start": 1745,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1778G>T",
"hgvs_p": "p.Arg593Leu",
"transcript": "ENST00000875145.1",
"protein_id": "ENSP00000545204.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 850,
"cds_start": 1778,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1778G>T",
"hgvs_p": "p.Arg593Leu",
"transcript": "ENST00000875138.1",
"protein_id": "ENSP00000545197.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 831,
"cds_start": 1778,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1778G>T",
"hgvs_p": "p.Arg593Leu",
"transcript": "ENST00000949667.1",
"protein_id": "ENSP00000619726.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 828,
"cds_start": 1778,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.1598G>T",
"hgvs_p": "p.Arg533Leu",
"transcript": "ENST00000949668.1",
"protein_id": "ENSP00000619727.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 801,
"cds_start": 1598,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.608G>T",
"hgvs_p": "p.Arg203Leu",
"transcript": "ENST00000372168.7",
"protein_id": "ENSP00000361241.3",
"transcript_support_level": 2,
"aa_start": 203,
"aa_end": null,
"aa_length": 471,
"cds_start": 608,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "c.926G>T",
"hgvs_p": "p.Arg309Leu",
"transcript": "XM_047430487.1",
"protein_id": "XP_047286443.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 577,
"cds_start": 926,
"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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "n.232G>T",
"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": 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.161G>T",
"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": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "n.174G>T",
"hgvs_p": null,
"transcript": "ENST00000487488.5",
"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": "ENST00000487488.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"hgvs_c": "n.*9G>T",
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"transcript": "ENST00000484564.1",
"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": "ENST00000484564.1"
}
],
"gene_symbol": "HECTD3",
"gene_hgnc_id": 26117,
"dbsnp": "rs760361763",
"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": 0.2096233367919922,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8199999928474426,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.142,
"revel_prediction": "Benign",
"alphamissense_score": 0.1421,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.293,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.82,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024602.6",
"gene_symbol": "HECTD3",
"hgnc_id": 26117,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1778G>T",
"hgvs_p": "p.Arg593Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}