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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: 1-77813737-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=77813737&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 77813737,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001270384.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Met182Thr",
"transcript": "NM_001416120.1",
"protein_id": "NP_001403049.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 600,
"cds_start": 545,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370791.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416120.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Met182Thr",
"transcript": "ENST00000370791.9",
"protein_id": "ENSP00000359827.4",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 600,
"cds_start": 545,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001416120.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370791.9"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Met182Thr",
"transcript": "ENST00000443751.4",
"protein_id": "ENSP00000393675.4",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 601,
"cds_start": 545,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443751.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Met214Thr",
"transcript": "NM_001270384.2",
"protein_id": "NP_001257313.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 633,
"cds_start": 641,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270384.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Met214Thr",
"transcript": "NM_198549.4",
"protein_id": "NP_940951.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 632,
"cds_start": 641,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198549.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Met214Thr",
"transcript": "ENST00000710932.1",
"protein_id": "ENSP00000518551.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 632,
"cds_start": 641,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710932.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.569T>C",
"hgvs_p": "p.Met190Thr",
"transcript": "ENST00000966507.1",
"protein_id": "ENSP00000636566.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 608,
"cds_start": 569,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966507.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.557T>C",
"hgvs_p": "p.Met186Thr",
"transcript": "NM_001394566.1",
"protein_id": "NP_001381495.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 604,
"cds_start": 557,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394566.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Met182Thr",
"transcript": "NM_001394567.1",
"protein_id": "NP_001381496.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 601,
"cds_start": 545,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394567.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Met182Thr",
"transcript": "NM_001394568.1",
"protein_id": "NP_001381497.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 601,
"cds_start": 545,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394568.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Met182Thr",
"transcript": "NM_001394569.1",
"protein_id": "NP_001381498.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 601,
"cds_start": 545,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394569.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Met182Thr",
"transcript": "NM_001394570.1",
"protein_id": "NP_001381499.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 601,
"cds_start": 545,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394570.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Met182Thr",
"transcript": "ENST00000646892.1",
"protein_id": "ENSP00000495239.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 601,
"cds_start": 545,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646892.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Met182Thr",
"transcript": "ENST00000881011.1",
"protein_id": "ENSP00000551070.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 601,
"cds_start": 545,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881011.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Met182Thr",
"transcript": "ENST00000881015.1",
"protein_id": "ENSP00000551074.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 601,
"cds_start": 545,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881015.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Met182Thr",
"transcript": "ENST00000966498.1",
"protein_id": "ENSP00000636557.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 601,
"cds_start": 545,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966498.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Met182Thr",
"transcript": "NM_001363583.1",
"protein_id": "NP_001350512.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 600,
"cds_start": 545,
"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": "NM_001363583.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Met182Thr",
"transcript": "NM_001363584.1",
"protein_id": "NP_001350513.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 600,
"cds_start": 545,
"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": "NM_001363584.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Met182Thr",
"transcript": "NM_001363586.1",
"protein_id": "NP_001350515.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 600,
"cds_start": 545,
"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": "NM_001363586.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Met182Thr",
"transcript": "NM_001394571.1",
"protein_id": "NP_001381500.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 600,
"cds_start": 545,
"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": "NM_001394571.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Met182Thr",
"transcript": "ENST00000645526.1",
"protein_id": "ENSP00000494964.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 600,
"cds_start": 545,
"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": "ENST00000645526.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.545T>C",
"hgvs_p": "p.Met182Thr",
"transcript": "ENST00000881008.1",
"protein_id": "ENSP00000551067.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 600,
"cds_start": 545,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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{
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{
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{
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{
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{
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{
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "MIGA1",
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"dbsnp": "rs138084686",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131418,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7145893573760986,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.377,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9824,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.893,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"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": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_001270384.2",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}