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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: X-130147501-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=130147501&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 130147501,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_004208.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Lys199Lys",
"transcript": "NM_004208.4",
"protein_id": "NP_004199.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 613,
"cds_start": 597,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": "ENST00000287295.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004208.4"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Lys199Lys",
"transcript": "ENST00000287295.8",
"protein_id": "ENSP00000287295.3",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 613,
"cds_start": 597,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": "NM_004208.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287295.8"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Lys199Lys",
"transcript": "ENST00000675092.1",
"protein_id": "ENSP00000501772.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 622,
"cds_start": 597,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675092.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Lys199Lys",
"transcript": "ENST00000319908.8",
"protein_id": "ENSP00000315122.4",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 611,
"cds_start": 597,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 2192,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319908.8"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Lys199Lys",
"transcript": "ENST00000535724.6",
"protein_id": "ENSP00000446113.2",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 324,
"cds_start": 597,
"cds_end": null,
"cds_length": 975,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 2248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535724.6"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "n.591A>G",
"hgvs_p": null,
"transcript": "ENST00000416073.7",
"protein_id": "ENSP00000402535.3",
"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": 2061,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000416073.7"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Lys199Lys",
"transcript": "ENST00000903846.1",
"protein_id": "ENSP00000573905.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 613,
"cds_start": 597,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 2097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903846.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Lys199Lys",
"transcript": "ENST00000675427.1",
"protein_id": "ENSP00000501880.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 612,
"cds_start": 597,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675427.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Lys199Lys",
"transcript": "ENST00000676328.1",
"protein_id": "ENSP00000502068.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 612,
"cds_start": 597,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 2086,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676328.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.591A>G",
"hgvs_p": "p.Lys197Lys",
"transcript": "ENST00000675857.1",
"protein_id": "ENSP00000502721.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 611,
"cds_start": 591,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675857.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.585A>G",
"hgvs_p": "p.Lys195Lys",
"transcript": "NM_145812.3",
"protein_id": "NP_665811.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 609,
"cds_start": 585,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 2210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145812.3"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.585A>G",
"hgvs_p": "p.Lys195Lys",
"transcript": "ENST00000676229.1",
"protein_id": "ENSP00000502184.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 609,
"cds_start": 585,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676229.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.591A>G",
"hgvs_p": "p.Lys197Lys",
"transcript": "ENST00000676436.1",
"protein_id": "ENSP00000502669.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 609,
"cds_start": 591,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 2048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676436.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Lys199Lys",
"transcript": "ENST00000903845.1",
"protein_id": "ENSP00000573904.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 600,
"cds_start": 597,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903845.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Lys199Lys",
"transcript": "ENST00000674546.1",
"protein_id": "ENSP00000501950.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 589,
"cds_start": 597,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 2233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674546.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Lys199Lys",
"transcript": "ENST00000675240.1",
"protein_id": "ENSP00000501907.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 565,
"cds_start": 597,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 2107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675240.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Lys199Lys",
"transcript": "ENST00000921976.1",
"protein_id": "ENSP00000592035.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 464,
"cds_start": 597,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921976.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Lys199Lys",
"transcript": "ENST00000903847.1",
"protein_id": "ENSP00000573906.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 410,
"cds_start": 597,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903847.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.597A>G",
"hgvs_p": "p.Lys199Lys",
"transcript": "NM_001130847.4",
"protein_id": "NP_001124319.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 324,
"cds_start": 597,
"cds_end": null,
"cds_length": 975,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 2425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130847.4"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.107-10316A>G",
"hgvs_p": null,
"transcript": "ENST00000346424.6",
"protein_id": "ENSP00000316320.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": null,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346424.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RAB33A",
"gene_hgnc_id": 9773,
"hgvs_c": "c.30+30116T>C",
"hgvs_p": null,
"transcript": "XM_017029963.3",
"protein_id": "XP_016885452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": null,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029963.3"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "n.*322A>G",
"hgvs_p": null,
"transcript": "ENST00000527892.5",
"protein_id": "ENSP00000435955.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"clinvar_submissions_summary": "LB:1 B:2",
"phenotype_combined": "Severe X-linked mitochondrial encephalomyopathy|Combined oxidative phosphorylation deficiency;Charcot-Marie-Tooth Neuropathy X|Charcot-Marie-Tooth disease X-linked recessive 4;Severe X-linked mitochondrial encephalomyopathy;Deafness, X-linked 5;Spondyloepimetaphyseal dysplasia, Bieganski type|AIFM1-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}