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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: 1-75740000-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=75740000&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 75740000,
"ref": "T",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001286043.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.489T>G",
"hgvs_p": "p.Pro163Pro",
"transcript": "NM_000016.6",
"protein_id": "NP_000007.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 421,
"cds_start": 489,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370841.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000016.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.489T>G",
"hgvs_p": "p.Pro163Pro",
"transcript": "ENST00000370841.9",
"protein_id": "ENSP00000359878.5",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 421,
"cds_start": 489,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000016.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370841.9"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.588T>G",
"hgvs_p": "p.Pro196Pro",
"transcript": "ENST00000370834.9",
"protein_id": "ENSP00000359871.5",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 454,
"cds_start": 588,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370834.9"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.501T>G",
"hgvs_p": "p.Pro167Pro",
"transcript": "ENST00000420607.6",
"protein_id": "ENSP00000409612.2",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 425,
"cds_start": 501,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420607.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.489T>G",
"hgvs_p": "p.Pro163Pro",
"transcript": "ENST00000541113.6",
"protein_id": "ENSP00000442324.2",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 389,
"cds_start": 489,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541113.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.*257T>G",
"hgvs_p": null,
"transcript": "ENST00000526196.5",
"protein_id": "ENSP00000431953.1",
"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": "ENST00000526196.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.*73T>G",
"hgvs_p": null,
"transcript": "ENST00000534334.5",
"protein_id": "ENSP00000435584.1",
"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": "ENST00000534334.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.*257T>G",
"hgvs_p": null,
"transcript": "ENST00000526196.5",
"protein_id": "ENSP00000431953.1",
"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": "ENST00000526196.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "n.*73T>G",
"hgvs_p": null,
"transcript": "ENST00000534334.5",
"protein_id": "ENSP00000435584.1",
"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": "ENST00000534334.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.588T>G",
"hgvs_p": "p.Pro196Pro",
"transcript": "NM_001286043.2",
"protein_id": "NP_001272972.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 454,
"cds_start": 588,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286043.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.489T>G",
"hgvs_p": "p.Pro163Pro",
"transcript": "ENST00000879989.1",
"protein_id": "ENSP00000550048.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 453,
"cds_start": 489,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879989.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.537T>G",
"hgvs_p": "p.Pro179Pro",
"transcript": "ENST00000879990.1",
"protein_id": "ENSP00000550049.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 437,
"cds_start": 537,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879990.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.501T>G",
"hgvs_p": "p.Pro167Pro",
"transcript": "NM_001127328.3",
"protein_id": "NP_001120800.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 425,
"cds_start": 501,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127328.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.489T>G",
"hgvs_p": "p.Pro163Pro",
"transcript": "ENST00000927351.1",
"protein_id": "ENSP00000597410.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 421,
"cds_start": 489,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927351.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.489T>G",
"hgvs_p": "p.Pro163Pro",
"transcript": "ENST00000879991.1",
"protein_id": "ENSP00000550050.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 420,
"cds_start": 489,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879991.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.486T>G",
"hgvs_p": "p.Pro162Pro",
"transcript": "ENST00000956292.1",
"protein_id": "ENSP00000626351.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 420,
"cds_start": 486,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956292.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.489T>G",
"hgvs_p": "p.Pro163Pro",
"transcript": "ENST00000879987.1",
"protein_id": "ENSP00000550046.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 419,
"cds_start": 489,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879987.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.408T>G",
"hgvs_p": "p.Pro136Pro",
"transcript": "ENST00000879995.1",
"protein_id": "ENSP00000550054.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 394,
"cds_start": 408,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879995.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.381T>G",
"hgvs_p": "p.Pro127Pro",
"transcript": "NM_001286042.2",
"protein_id": "NP_001272971.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 385,
"cds_start": 381,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286042.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.489T>G",
"hgvs_p": "p.Pro163Pro",
"transcript": "ENST00000879992.1",
"protein_id": "ENSP00000550051.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 378,
"cds_start": 489,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879992.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.489T>G",
"hgvs_p": "p.Pro163Pro",
"transcript": "ENST00000680805.1",
"protein_id": "ENSP00000505447.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 374,
"cds_start": 489,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680805.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADM",
"gene_hgnc_id": 89,
"hgvs_c": "c.489T>G",
"hgvs_p": "p.Pro163Pro",
"transcript": "ENST00000680964.1",
"protein_id": "ENSP00000505961.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 342,
"cds_start": 489,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680964.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
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],
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"dbsnp": "rs78392995",
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"hom_count_reference_population": 217,
"allele_count_reference_population": 6497,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.46000000834465027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
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"alphamissense_score": 0.0819,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.311,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"mitotip_score": null,
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"acmg_score": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001286043.2",
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"hgnc_id": 89,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.588T>G",
"hgvs_p": "p.Pro196Pro"
}
],
"clinvar_disease": "Medium-chain acyl-coenzyme A dehydrogenase deficiency,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8",
"phenotype_combined": "not specified|Medium-chain acyl-coenzyme A dehydrogenase deficiency|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}