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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-5892947-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=5892947&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 5892947,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_181332.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "K",
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2321T>A",
"hgvs_p": "p.Met774Lys",
"transcript": "NM_181332.3",
"protein_id": "NP_851849.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 816,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2953,
"cdna_end": null,
"cdna_length": 5858,
"mane_select": "ENST00000381095.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": true,
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2321T>A",
"hgvs_p": "p.Met774Lys",
"transcript": "ENST00000381095.8",
"protein_id": "ENSP00000370485.3",
"transcript_support_level": 1,
"aa_start": 774,
"aa_end": null,
"aa_length": 816,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2953,
"cdna_end": null,
"cdna_length": 5858,
"mane_select": "NM_181332.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2381T>A",
"hgvs_p": "p.Met794Lys",
"transcript": "ENST00000538097.6",
"protein_id": "ENSP00000439203.3",
"transcript_support_level": 1,
"aa_start": 794,
"aa_end": null,
"aa_length": 836,
"cds_start": 2381,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 2381,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2321T>A",
"hgvs_p": "p.Met774Lys",
"transcript": "ENST00000275857.10",
"protein_id": "ENSP00000275857.6",
"transcript_support_level": 1,
"aa_start": 774,
"aa_end": null,
"aa_length": 816,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2785,
"cdna_end": null,
"cdna_length": 5454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2321T>A",
"hgvs_p": "p.Met774Lys",
"transcript": "NM_001282145.2",
"protein_id": "NP_001269074.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 816,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 3260,
"cdna_end": null,
"cdna_length": 6165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2321T>A",
"hgvs_p": "p.Met774Lys",
"transcript": "NM_001282146.2",
"protein_id": "NP_001269075.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 816,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2834,
"cdna_end": null,
"cdna_length": 5739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2321T>A",
"hgvs_p": "p.Met774Lys",
"transcript": "NM_001441322.1",
"protein_id": "NP_001428251.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 816,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2848,
"cdna_end": null,
"cdna_length": 5753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2321T>A",
"hgvs_p": "p.Met774Lys",
"transcript": "NM_001441323.1",
"protein_id": "NP_001428252.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 816,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2696,
"cdna_end": null,
"cdna_length": 5601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2321T>A",
"hgvs_p": "p.Met774Lys",
"transcript": "NM_001441324.1",
"protein_id": "NP_001428253.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 816,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 3021,
"cdna_end": null,
"cdna_length": 5926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2321T>A",
"hgvs_p": "p.Met774Lys",
"transcript": "NM_001441325.1",
"protein_id": "NP_001428254.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 816,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 3026,
"cdna_end": null,
"cdna_length": 5931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2321T>A",
"hgvs_p": "p.Met774Lys",
"transcript": "NM_020742.4",
"protein_id": "NP_065793.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 816,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2785,
"cdna_end": null,
"cdna_length": 5690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2321T>A",
"hgvs_p": "p.Met774Lys",
"transcript": "ENST00000381092.1",
"protein_id": "ENSP00000370482.1",
"transcript_support_level": 2,
"aa_start": 774,
"aa_end": null,
"aa_length": 816,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 3008,
"cdna_end": null,
"cdna_length": 3750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2321T>A",
"hgvs_p": "p.Met774Lys",
"transcript": "ENST00000381093.6",
"protein_id": "ENSP00000370483.3",
"transcript_support_level": 2,
"aa_start": 774,
"aa_end": null,
"aa_length": 816,
"cds_start": 2321,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2950,
"cdna_end": null,
"cdna_length": 5865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2381T>A",
"hgvs_p": "p.Met794Lys",
"transcript": "XM_005274564.4",
"protein_id": "XP_005274621.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
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"cds_start": 2381,
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"cdna_start": 3013,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2381T>A",
"hgvs_p": "p.Met794Lys",
"transcript": "XM_005274565.3",
"protein_id": "XP_005274622.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 836,
"cds_start": 2381,
"cds_end": null,
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"cdna_start": 2894,
"cdna_end": null,
"cdna_length": 5799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2381T>A",
"hgvs_p": "p.Met794Lys",
"transcript": "XM_005274566.5",
"protein_id": "XP_005274623.1",
"transcript_support_level": null,
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"cdna_start": 2756,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2381T>A",
"hgvs_p": "p.Met794Lys",
"transcript": "XM_006724504.3",
"protein_id": "XP_006724567.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 836,
"cds_start": 2381,
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"cdna_start": 2890,
"cdna_end": null,
"cdna_length": 5795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2381T>A",
"hgvs_p": "p.Met794Lys",
"transcript": "XM_011545547.3",
"protein_id": "XP_011543849.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 836,
"cds_start": 2381,
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"cdna_start": 2908,
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"cdna_length": 5813,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2381T>A",
"hgvs_p": "p.Met794Lys",
"transcript": "XM_011545548.3",
"protein_id": "XP_011543850.1",
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"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2321T>A",
"hgvs_p": "p.Met774Lys",
"transcript": "XM_017029693.2",
"protein_id": "XP_016885182.1",
"transcript_support_level": null,
"aa_start": 774,
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"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2321T>A",
"hgvs_p": "p.Met774Lys",
"transcript": "XM_047442281.1",
"protein_id": "XP_047298237.1",
"transcript_support_level": null,
"aa_start": 774,
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"aa_length": 816,
"cds_start": 2321,
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"cdna_start": 3075,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "K",
"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": "NLGN4X",
"gene_hgnc_id": 14287,
"hgvs_c": "c.2321T>A",
"hgvs_p": "p.Met774Lys",
"transcript": "XM_047442282.1",
"protein_id": "XP_047298238.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 816,
"cds_start": 2321,
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"cdna_start": 2921,
"cdna_end": null,
"cdna_length": 5826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "NLGN4X",
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"transcript": "ENST00000477079.1",
"protein_id": null,
"transcript_support_level": 2,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NLGN4X",
"gene_hgnc_id": 14287,
"dbsnp": "rs768321834",
"frequency_reference_population": 9.1052374e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.10524e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.726147472858429,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.431,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6179,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.996,
"phylop100way_prediction": "Pathogenic",
"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_181332.3",
"gene_symbol": "NLGN4X",
"hgnc_id": 14287,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.2321T>A",
"hgvs_p": "p.Met774Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}