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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: 18-57601666-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=57601666&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 57601666,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004539.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "c.1633C>T",
"hgvs_p": "p.Arg545Cys",
"transcript": "NM_004539.4",
"protein_id": "NP_004530.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 548,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000256854.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004539.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "c.1633C>T",
"hgvs_p": "p.Arg545Cys",
"transcript": "ENST00000256854.10",
"protein_id": "ENSP00000256854.4",
"transcript_support_level": 1,
"aa_start": 545,
"aa_end": null,
"aa_length": 548,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004539.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256854.10"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "c.1693C>T",
"hgvs_p": "p.Arg565Cys",
"transcript": "ENST00000925915.1",
"protein_id": "ENSP00000595974.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 568,
"cds_start": 1693,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925915.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "c.1630C>T",
"hgvs_p": "p.Arg544Cys",
"transcript": "ENST00000902983.1",
"protein_id": "ENSP00000573042.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 547,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902983.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Cys",
"transcript": "ENST00000925914.1",
"protein_id": "ENSP00000595973.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 546,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925914.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "c.1627C>T",
"hgvs_p": "p.Arg543Cys",
"transcript": "ENST00000944520.1",
"protein_id": "ENSP00000614579.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 546,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944520.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "c.1624C>T",
"hgvs_p": "p.Arg542Cys",
"transcript": "ENST00000944521.1",
"protein_id": "ENSP00000614580.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 545,
"cds_start": 1624,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944521.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "c.1624C>T",
"hgvs_p": "p.Arg542Cys",
"transcript": "ENST00000944522.1",
"protein_id": "ENSP00000614581.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 545,
"cds_start": 1624,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944522.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "c.1624C>T",
"hgvs_p": "p.Arg542Cys",
"transcript": "ENST00000944523.1",
"protein_id": "ENSP00000614582.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 545,
"cds_start": 1624,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944523.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "c.1621C>T",
"hgvs_p": "p.Arg541Cys",
"transcript": "ENST00000925918.1",
"protein_id": "ENSP00000595977.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 544,
"cds_start": 1621,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925918.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "c.1501C>T",
"hgvs_p": "p.Arg501Cys",
"transcript": "ENST00000902985.1",
"protein_id": "ENSP00000573044.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 504,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902985.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "c.1393C>T",
"hgvs_p": "p.Arg465Cys",
"transcript": "ENST00000902986.1",
"protein_id": "ENSP00000573045.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 468,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902986.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "c.1390C>T",
"hgvs_p": "p.Arg464Cys",
"transcript": "ENST00000902984.1",
"protein_id": "ENSP00000573043.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 467,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902984.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Arg462Cys",
"transcript": "ENST00000925916.1",
"protein_id": "ENSP00000595975.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 465,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925916.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "c.1369C>T",
"hgvs_p": "p.Arg457Cys",
"transcript": "ENST00000902989.1",
"protein_id": "ENSP00000573048.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 460,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902989.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Arg433Cys",
"transcript": "ENST00000902988.1",
"protein_id": "ENSP00000573047.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 436,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902988.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "c.1234C>T",
"hgvs_p": "p.Arg412Cys",
"transcript": "ENST00000902987.1",
"protein_id": "ENSP00000573046.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 415,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902987.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "c.1003C>T",
"hgvs_p": "p.Arg335Cys",
"transcript": "ENST00000925917.1",
"protein_id": "ENSP00000595976.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 338,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925917.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "c.1630C>T",
"hgvs_p": "p.Arg544Cys",
"transcript": "XM_005266700.3",
"protein_id": "XP_005266757.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 547,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266700.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "n.*813C>T",
"hgvs_p": null,
"transcript": "ENST00000586807.5",
"protein_id": "ENSP00000464988.1",
"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": "ENST00000586807.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "n.713C>T",
"hgvs_p": null,
"transcript": "ENST00000589314.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000589314.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"hgvs_c": "n.*813C>T",
"hgvs_p": null,
"transcript": "ENST00000586807.5",
"protein_id": "ENSP00000464988.1",
"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": "ENST00000586807.5"
}
],
"gene_symbol": "NARS1",
"gene_hgnc_id": 7643,
"dbsnp": "rs770931044",
"frequency_reference_population": 0.000013633028,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000143679,
"gnomad_genomes_af": 0.00000657324,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8949232697486877,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.814,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8481,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.491,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_004539.4",
"gene_symbol": "NARS1",
"hgnc_id": 7643,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1633C>T",
"hgvs_p": "p.Arg545Cys"
}
],
"clinvar_disease": " and gait abnormalities, impaired language,Neurodevelopmental disorder with microcephaly,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"phenotype_combined": "Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}