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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: 21-39345211-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=39345211&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 39345211,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004965.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "NM_004965.7",
"protein_id": "NP_004956.5",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 100,
"cds_start": 190,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380749.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004965.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "ENST00000380749.10",
"protein_id": "ENSP00000370125.5",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 100,
"cds_start": 190,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004965.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380749.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Glu80Lys",
"transcript": "ENST00000380747.5",
"protein_id": "ENSP00000370123.1",
"transcript_support_level": 3,
"aa_start": 80,
"aa_end": null,
"aa_length": 116,
"cds_start": 238,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380747.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "ENST00000910672.1",
"protein_id": "ENSP00000580731.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 100,
"cds_start": 190,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910672.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "ENST00000910673.1",
"protein_id": "ENSP00000580732.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 100,
"cds_start": 190,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910673.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "ENST00000910674.1",
"protein_id": "ENSP00000580733.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 100,
"cds_start": 190,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910674.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "ENST00000910675.1",
"protein_id": "ENSP00000580734.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 100,
"cds_start": 190,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910675.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "ENST00000946299.1",
"protein_id": "ENSP00000616358.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 100,
"cds_start": 190,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946299.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys",
"transcript": "ENST00000946300.1",
"protein_id": "ENSP00000616359.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 100,
"cds_start": 190,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946300.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "c.184G>A",
"hgvs_p": "p.Glu62Lys",
"transcript": "ENST00000910676.1",
"protein_id": "ENSP00000580735.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 98,
"cds_start": 184,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910676.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Glu54Lys",
"transcript": "ENST00000380748.5",
"protein_id": "ENSP00000370124.1",
"transcript_support_level": 3,
"aa_start": 54,
"aa_end": null,
"aa_length": 90,
"cds_start": 160,
"cds_end": null,
"cds_length": 273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380748.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "c.157G>A",
"hgvs_p": "p.Glu53Lys",
"transcript": "ENST00000910678.1",
"protein_id": "ENSP00000580737.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 89,
"cds_start": 157,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910678.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Glu48Lys",
"transcript": "ENST00000910677.1",
"protein_id": "ENSP00000580736.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 84,
"cds_start": 142,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910677.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Glu43Lys",
"transcript": "ENST00000910679.1",
"protein_id": "ENSP00000580738.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 79,
"cds_start": 127,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910679.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Pro27Pro",
"transcript": "XM_024452071.2",
"protein_id": "XP_024307839.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 168,
"cds_start": 81,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452071.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Pro27Pro",
"transcript": "XM_047440757.1",
"protein_id": "XP_047296713.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 168,
"cds_start": 81,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440757.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Pro27Pro",
"transcript": "XM_047440758.1",
"protein_id": "XP_047296714.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 168,
"cds_start": 81,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440758.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "n.*172G>A",
"hgvs_p": null,
"transcript": "ENST00000288344.14",
"protein_id": "ENSP00000288344.10",
"transcript_support_level": 2,
"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": "ENST00000288344.14"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "n.*152G>A",
"hgvs_p": null,
"transcript": "ENST00000419378.5",
"protein_id": "ENSP00000396693.1",
"transcript_support_level": 2,
"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": "ENST00000419378.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "n.*281G>A",
"hgvs_p": null,
"transcript": "ENST00000431390.5",
"protein_id": "ENSP00000395291.1",
"transcript_support_level": 3,
"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": "ENST00000431390.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "n.*160G>A",
"hgvs_p": null,
"transcript": "ENST00000436324.5",
"protein_id": "ENSP00000414421.1",
"transcript_support_level": 2,
"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": "ENST00000436324.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN1",
"gene_hgnc_id": 4984,
"hgvs_c": "n.*335G>A",
"hgvs_p": null,
"transcript": "ENST00000443046.5",
"protein_id": "ENSP00000395787.1",
"transcript_support_level": 3,
"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": "ENST00000443046.5"
},
{
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{
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"dbsnp": "rs139139360",
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09216755628585815,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.15,
"revel_prediction": "Benign",
"alphamissense_score": 0.228,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.453,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_004965.7",
"gene_symbol": "HMGN1",
"hgnc_id": 4984,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Glu64Lys"
},
{
"score": -6,
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"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "XR_007067953.1",
"gene_symbol": "LOC124905074",
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"effects": [
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],
"inheritance_mode": "",
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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
}