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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-130129618-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=130129618&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 130129618,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004208.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1781A>C",
"hgvs_p": "p.Asp594Ala",
"transcript": "NM_004208.4",
"protein_id": "NP_004199.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 613,
"cds_start": 1781,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000287295.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004208.4"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1781A>C",
"hgvs_p": "p.Asp594Ala",
"transcript": "ENST00000287295.8",
"protein_id": "ENSP00000287295.3",
"transcript_support_level": 1,
"aa_start": 594,
"aa_end": null,
"aa_length": 613,
"cds_start": 1781,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004208.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287295.8"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1808A>C",
"hgvs_p": "p.Asp603Ala",
"transcript": "ENST00000675092.1",
"protein_id": "ENSP00000501772.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 622,
"cds_start": 1808,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675092.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1775A>C",
"hgvs_p": "p.Asp592Ala",
"transcript": "ENST00000319908.8",
"protein_id": "ENSP00000315122.4",
"transcript_support_level": 1,
"aa_start": 592,
"aa_end": null,
"aa_length": 611,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319908.8"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.764A>C",
"hgvs_p": "p.Asp255Ala",
"transcript": "ENST00000460436.6",
"protein_id": "ENSP00000431222.1",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 274,
"cds_start": 764,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460436.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.*1009A>C",
"hgvs_p": null,
"transcript": "ENST00000535724.6",
"protein_id": "ENSP00000446113.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": null,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "n.*445A>C",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000416073.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "n.*445A>C",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000416073.7"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1781A>C",
"hgvs_p": "p.Asp594Ala",
"transcript": "ENST00000903846.1",
"protein_id": "ENSP00000573905.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 613,
"cds_start": 1781,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903846.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1778A>C",
"hgvs_p": "p.Asp593Ala",
"transcript": "ENST00000675427.1",
"protein_id": "ENSP00000501880.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 612,
"cds_start": 1778,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675427.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1778A>C",
"hgvs_p": "p.Asp593Ala",
"transcript": "ENST00000676328.1",
"protein_id": "ENSP00000502068.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 612,
"cds_start": 1778,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676328.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1775A>C",
"hgvs_p": "p.Asp592Ala",
"transcript": "ENST00000675857.1",
"protein_id": "ENSP00000502721.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 611,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675857.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1769A>C",
"hgvs_p": "p.Asp590Ala",
"transcript": "NM_145812.3",
"protein_id": "NP_665811.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 609,
"cds_start": 1769,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145812.3"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1769A>C",
"hgvs_p": "p.Asp590Ala",
"transcript": "ENST00000676229.1",
"protein_id": "ENSP00000502184.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 609,
"cds_start": 1769,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676229.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1769A>C",
"hgvs_p": "p.Asp590Ala",
"transcript": "ENST00000676436.1",
"protein_id": "ENSP00000502669.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 609,
"cds_start": 1769,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676436.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1742A>C",
"hgvs_p": "p.Asp581Ala",
"transcript": "ENST00000903845.1",
"protein_id": "ENSP00000573904.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 600,
"cds_start": 1742,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903845.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1334A>C",
"hgvs_p": "p.Asp445Ala",
"transcript": "ENST00000921976.1",
"protein_id": "ENSP00000592035.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 464,
"cds_start": 1334,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921976.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Asp391Ala",
"transcript": "ENST00000903847.1",
"protein_id": "ENSP00000573906.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 410,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903847.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.920A>C",
"hgvs_p": "p.Asp307Ala",
"transcript": "ENST00000346424.6",
"protein_id": "ENSP00000316320.3",
"transcript_support_level": 2,
"aa_start": 307,
"aa_end": null,
"aa_length": 326,
"cds_start": 920,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346424.6"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.764A>C",
"hgvs_p": "p.Asp255Ala",
"transcript": "NM_001130846.4",
"protein_id": "NP_001124318.2",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 274,
"cds_start": 764,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130846.4"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.626A>C",
"hgvs_p": "p.Asp209Ala",
"transcript": "ENST00000674601.1",
"protein_id": "ENSP00000502764.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 228,
"cds_start": 626,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674601.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM1",
"gene_hgnc_id": 8768,
"hgvs_c": "c.*19A>C",
"hgvs_p": null,
"transcript": "ENST00000674546.1",
"protein_id": "ENSP00000501950.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": null,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"phylop100way_prediction": "Uncertain_significance",
"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_004208.4",
"gene_symbol": "AIFM1",
"hgnc_id": 8768,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1781A>C",
"hgvs_p": "p.Asp594Ala"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000830747.1",
"gene_symbol": "ENSG00000286650",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.185+12233T>G",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XM_017029963.3",
"gene_symbol": "RAB33A",
"hgnc_id": 9773,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.30+12233T>G",
"hgvs_p": null
}
],
"clinvar_disease": "Charcot-Marie-Tooth Neuropathy X,Combined oxidative phosphorylation deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Combined oxidative phosphorylation deficiency;Charcot-Marie-Tooth Neuropathy X",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}