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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-132406269-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=132406269&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 132406269,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001386891.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.301C>A",
"hgvs_p": "p.Gln101Lys",
"transcript": "NM_001386889.1",
"protein_id": "NP_001373818.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 354,
"cds_start": 301,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370853.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386889.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.301C>A",
"hgvs_p": "p.Gln101Lys",
"transcript": "ENST00000370853.8",
"protein_id": "ENSP00000359890.3",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 354,
"cds_start": 301,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001386889.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370853.8"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.301C>A",
"hgvs_p": "p.Gln101Lys",
"transcript": "ENST00000370839.7",
"protein_id": "ENSP00000359876.3",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 334,
"cds_start": 301,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370839.7"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Gln51Lys",
"transcript": "ENST00000538204.6",
"protein_id": "ENSP00000439618.1",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 292,
"cds_start": 151,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538204.6"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.13C>A",
"hgvs_p": "p.Gln5Lys",
"transcript": "ENST00000370844.5",
"protein_id": "ENSP00000359881.1",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 258,
"cds_start": 13,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370844.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.301C>A",
"hgvs_p": "p.Gln101Lys",
"transcript": "NM_001386891.1",
"protein_id": "NP_001373820.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 369,
"cds_start": 301,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386891.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.301C>A",
"hgvs_p": "p.Gln101Lys",
"transcript": "NM_001386892.1",
"protein_id": "NP_001373821.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 369,
"cds_start": 301,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386892.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.301C>A",
"hgvs_p": "p.Gln101Lys",
"transcript": "NM_001386894.1",
"protein_id": "NP_001373823.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 354,
"cds_start": 301,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386894.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.301C>A",
"hgvs_p": "p.Gln101Lys",
"transcript": "NM_001386896.1",
"protein_id": "NP_001373825.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 354,
"cds_start": 301,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386896.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.301C>A",
"hgvs_p": "p.Gln101Lys",
"transcript": "NM_001386897.1",
"protein_id": "NP_001373826.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 354,
"cds_start": 301,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386897.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.301C>A",
"hgvs_p": "p.Gln101Lys",
"transcript": "NM_018388.4",
"protein_id": "NP_060858.2",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 354,
"cds_start": 301,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018388.4"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.301C>A",
"hgvs_p": "p.Gln101Lys",
"transcript": "ENST00000698664.1",
"protein_id": "ENSP00000513866.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 354,
"cds_start": 301,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698664.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.301C>A",
"hgvs_p": "p.Gln101Lys",
"transcript": "ENST00000852882.1",
"protein_id": "ENSP00000522941.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 354,
"cds_start": 301,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852882.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.301C>A",
"hgvs_p": "p.Gln101Lys",
"transcript": "ENST00000852884.1",
"protein_id": "ENSP00000522943.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 354,
"cds_start": 301,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852884.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.301C>A",
"hgvs_p": "p.Gln101Lys",
"transcript": "ENST00000852885.1",
"protein_id": "ENSP00000522944.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 354,
"cds_start": 301,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852885.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.301C>A",
"hgvs_p": "p.Gln101Lys",
"transcript": "ENST00000852886.1",
"protein_id": "ENSP00000522945.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 354,
"cds_start": 301,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852886.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.301C>A",
"hgvs_p": "p.Gln101Lys",
"transcript": "ENST00000852887.1",
"protein_id": "ENSP00000522946.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 354,
"cds_start": 301,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852887.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.301C>A",
"hgvs_p": "p.Gln101Lys",
"transcript": "ENST00000370857.7",
"protein_id": "ENSP00000359894.3",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 342,
"cds_start": 301,
"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": "ENST00000370857.7"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.301C>A",
"hgvs_p": "p.Gln101Lys",
"transcript": "NM_133486.4",
"protein_id": "NP_597846.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 334,
"cds_start": 301,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133486.4"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.175C>A",
"hgvs_p": "p.Gln59Lys",
"transcript": "ENST00000442191.6",
"protein_id": "ENSP00000412065.2",
"transcript_support_level": 2,
"aa_start": 59,
"aa_end": null,
"aa_length": 327,
"cds_start": 175,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442191.6"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.175C>A",
"hgvs_p": "p.Gln59Lys",
"transcript": "ENST00000698663.1",
"protein_id": "ENSP00000513865.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 321,
"cds_start": 175,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698663.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBNL3",
"gene_hgnc_id": 20564,
"hgvs_c": "c.301C>A",
"hgvs_p": "p.Gln101Lys",
"transcript": "NM_001386898.1",
"protein_id": "NP_001373827.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 319,
"cds_start": 301,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
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"computational_score_selected": 0.41111475229263306,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001386891.1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.301C>A",
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},
{
"score": 1,
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"BP4"
],
"verdict": "Uncertain_significance",
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"gene_symbol": "RAP2C-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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}
],
"clinvar_disease": "MBNL3-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "MBNL3-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}