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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: 7-141641362-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=141641362&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 141641362,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000649286.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281*",
"transcript": "NM_018238.4",
"protein_id": "NP_060708.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 422,
"cds_start": 841,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": "ENST00000649286.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281*",
"transcript": "ENST00000649286.2",
"protein_id": "ENSP00000497280.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 422,
"cds_start": 841,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": "NM_018238.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281*",
"transcript": "ENST00000648068.1",
"protein_id": "ENSP00000498112.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 422,
"cds_start": 841,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281*",
"transcript": "ENST00000650547.1",
"protein_id": "ENSP00000496789.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 422,
"cds_start": 841,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Arg277*",
"transcript": "ENST00000649914.1",
"protein_id": "ENSP00000497848.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 418,
"cds_start": 829,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253*",
"transcript": "ENST00000473247.5",
"protein_id": "ENSP00000420776.1",
"transcript_support_level": 5,
"aa_start": 253,
"aa_end": null,
"aa_length": 394,
"cds_start": 757,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 1550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281*",
"transcript": "NM_001364948.3",
"protein_id": "NP_001351877.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 350,
"cds_start": 841,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 1216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281*",
"transcript": "ENST00000650006.1",
"protein_id": "ENSP00000497457.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 350,
"cds_start": 841,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 1201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.565C>T",
"hgvs_p": "p.Arg189*",
"transcript": "ENST00000648395.1",
"protein_id": "ENSP00000497666.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 330,
"cds_start": 565,
"cds_end": null,
"cds_length": 993,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281*",
"transcript": "XM_011516397.4",
"protein_id": "XP_011514699.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 422,
"cds_start": 841,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 4489,
"cdna_end": null,
"cdna_length": 7237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281*",
"transcript": "XM_024446835.2",
"protein_id": "XP_024302603.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 422,
"cds_start": 841,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.*804C>T",
"hgvs_p": null,
"transcript": "ENST00000647568.1",
"protein_id": "ENSP00000497039.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.872C>T",
"hgvs_p": null,
"transcript": "ENST00000648489.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.*116C>T",
"hgvs_p": null,
"transcript": "ENST00000649014.1",
"protein_id": "ENSP00000497984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.*849C>T",
"hgvs_p": null,
"transcript": "ENST00000649365.1",
"protein_id": "ENSP00000496835.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.*277C>T",
"hgvs_p": null,
"transcript": "ENST00000649790.1",
"protein_id": "ENSP00000498193.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.*726C>T",
"hgvs_p": null,
"transcript": "ENST00000650365.1",
"protein_id": "ENSP00000497358.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.*804C>T",
"hgvs_p": null,
"transcript": "ENST00000647568.1",
"protein_id": "ENSP00000497039.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.*116C>T",
"hgvs_p": null,
"transcript": "ENST00000649014.1",
"protein_id": "ENSP00000497984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.*849C>T",
"hgvs_p": null,
"transcript": "ENST00000649365.1",
"protein_id": "ENSP00000496835.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.*277C>T",
"hgvs_p": null,
"transcript": "ENST00000649790.1",
"protein_id": "ENSP00000498193.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.*726C>T",
"hgvs_p": null,
"transcript": "ENST00000650365.1",
"protein_id": "ENSP00000497358.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "c.718-449C>T",
"hgvs_p": null,
"transcript": "ENST00000629555.2",
"protein_id": "ENSP00000487274.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": -4,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"hgvs_c": "n.718-449C>T",
"hgvs_p": null,
"transcript": "ENST00000494688.1",
"protein_id": "ENSP00000418101.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AGK",
"gene_hgnc_id": 21869,
"dbsnp": "rs387907025",
"frequency_reference_population": 0.0000111572,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.000011634,
"gnomad_genomes_af": 0.00000657575,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3100000023841858,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.7,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000649286.2",
"gene_symbol": "AGK",
"hgnc_id": 21869,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281*"
}
],
"clinvar_disease": "Cataract 38,Sengers syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Sengers syndrome|Sengers syndrome;Cataract 38|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}