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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: 2-206146919-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=206146919&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 206146919,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001199984.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Arg241Gly",
"transcript": "NM_005006.7",
"protein_id": "NP_004997.4",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 727,
"cds_start": 721,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 11660,
"mane_select": "ENST00000233190.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005006.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Arg241Gly",
"transcript": "ENST00000233190.11",
"protein_id": "ENSP00000233190.5",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 727,
"cds_start": 721,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 11660,
"mane_select": "NM_005006.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233190.11"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.763C>G",
"hgvs_p": "p.Arg255Gly",
"transcript": "NM_001199984.2",
"protein_id": "NP_001186913.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 741,
"cds_start": 763,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 11670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199984.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Arg241Gly",
"transcript": "ENST00000903706.1",
"protein_id": "ENSP00000573765.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 730,
"cds_start": 721,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 2556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903706.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Arg241Gly",
"transcript": "ENST00000449699.5",
"protein_id": "ENSP00000399912.1",
"transcript_support_level": 2,
"aa_start": 241,
"aa_end": null,
"aa_length": 727,
"cds_start": 721,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 2371,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449699.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Arg241Gly",
"transcript": "ENST00000903708.1",
"protein_id": "ENSP00000573767.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 727,
"cds_start": 721,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903708.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Arg241Gly",
"transcript": "ENST00000903709.1",
"protein_id": "ENSP00000573768.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 727,
"cds_start": 721,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 3444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903709.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Arg241Gly",
"transcript": "ENST00000938122.1",
"protein_id": "ENSP00000608181.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 727,
"cds_start": 721,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938122.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Arg241Gly",
"transcript": "ENST00000938124.1",
"protein_id": "ENSP00000608183.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 727,
"cds_start": 721,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938124.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Arg241Gly",
"transcript": "ENST00000948901.1",
"protein_id": "ENSP00000618960.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 727,
"cds_start": 721,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948901.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Arg241Gly",
"transcript": "ENST00000948907.1",
"protein_id": "ENSP00000618966.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 727,
"cds_start": 721,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1798,
"cdna_end": null,
"cdna_length": 3609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948907.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Arg241Gly",
"transcript": "ENST00000903702.1",
"protein_id": "ENSP00000573761.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 725,
"cds_start": 721,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903702.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Arg241Gly",
"transcript": "ENST00000948898.1",
"protein_id": "ENSP00000618957.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 724,
"cds_start": 721,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 3458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948898.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Arg241Gly",
"transcript": "ENST00000948903.1",
"protein_id": "ENSP00000618962.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 717,
"cds_start": 721,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 2532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948903.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Arg241Gly",
"transcript": "ENST00000903704.1",
"protein_id": "ENSP00000573763.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 711,
"cds_start": 721,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903704.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Arg241Gly",
"transcript": "ENST00000903701.1",
"protein_id": "ENSP00000573760.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 706,
"cds_start": 721,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903701.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Arg241Gly",
"transcript": "ENST00000948906.1",
"protein_id": "ENSP00000618965.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 704,
"cds_start": 721,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948906.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.613C>G",
"hgvs_p": "p.Arg205Gly",
"transcript": "NM_001199981.2",
"protein_id": "NP_001186910.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 691,
"cds_start": 613,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 11552,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199981.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.613C>G",
"hgvs_p": "p.Arg205Gly",
"transcript": "ENST00000440274.5",
"protein_id": "ENSP00000409766.1",
"transcript_support_level": 2,
"aa_start": 205,
"aa_end": null,
"aa_length": 691,
"cds_start": 613,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 2394,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440274.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Arg241Gly",
"transcript": "ENST00000903700.1",
"protein_id": "ENSP00000573759.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 684,
"cds_start": 721,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903700.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Arg241Gly",
"transcript": "ENST00000903705.1",
"protein_id": "ENSP00000573764.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 682,
"cds_start": 721,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 2425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903705.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFS1",
"gene_hgnc_id": 7707,
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Arg241Gly",
"transcript": "ENST00000903707.1",
"protein_id": "ENSP00000573766.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
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}