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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: 19-8455467-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=8455467&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 8455467,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005968.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asn59Ile",
"transcript": "NM_005968.5",
"protein_id": "NP_005959.2",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 730,
"cds_start": 176,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000325495.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005968.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asn59Ile",
"transcript": "ENST00000325495.9",
"protein_id": "ENSP00000325376.2",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 730,
"cds_start": 176,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005968.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325495.9"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asn59Ile",
"transcript": "ENST00000348943.7",
"protein_id": "ENSP00000325732.2",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 691,
"cds_start": 176,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348943.7"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asn59Ile",
"transcript": "ENST00000940928.1",
"protein_id": "ENSP00000610987.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 722,
"cds_start": 176,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940928.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asn59Ile",
"transcript": "ENST00000903831.1",
"protein_id": "ENSP00000573890.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 707,
"cds_start": 176,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903831.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asn59Ile",
"transcript": "NM_031203.4",
"protein_id": "NP_112480.2",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 691,
"cds_start": 176,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031203.4"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asn59Ile",
"transcript": "ENST00000938811.1",
"protein_id": "ENSP00000608870.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 526,
"cds_start": 176,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938811.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asn59Ile",
"transcript": "ENST00000938810.1",
"protein_id": "ENSP00000608869.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 477,
"cds_start": 176,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938810.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asn59Ile",
"transcript": "ENST00000938809.1",
"protein_id": "ENSP00000608868.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 459,
"cds_start": 176,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938809.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asn59Ile",
"transcript": "ENST00000594907.5",
"protein_id": "ENSP00000472789.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 356,
"cds_start": 176,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594907.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asn59Ile",
"transcript": "ENST00000600092.5",
"protein_id": "ENSP00000470932.1",
"transcript_support_level": 2,
"aa_start": 59,
"aa_end": null,
"aa_length": 351,
"cds_start": 176,
"cds_end": null,
"cds_length": 1058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600092.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asn59Ile",
"transcript": "ENST00000601645.5",
"protein_id": "ENSP00000471339.1",
"transcript_support_level": 3,
"aa_start": 59,
"aa_end": null,
"aa_length": 274,
"cds_start": 176,
"cds_end": null,
"cds_length": 827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601645.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asn59Ile",
"transcript": "ENST00000596984.5",
"protein_id": "ENSP00000470017.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 218,
"cds_start": 176,
"cds_end": null,
"cds_length": 658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596984.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asn59Ile",
"transcript": "ENST00000938808.1",
"protein_id": "ENSP00000608867.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 148,
"cds_start": 176,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938808.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asn59Ile",
"transcript": "XM_005272478.4",
"protein_id": "XP_005272535.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 715,
"cds_start": 176,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272478.4"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asn59Ile",
"transcript": "XM_005272479.3",
"protein_id": "XP_005272536.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 712,
"cds_start": 176,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272479.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asn59Ile",
"transcript": "XM_017026823.2",
"protein_id": "XP_016882312.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 697,
"cds_start": 176,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026823.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asn59Ile",
"transcript": "XM_005272480.3",
"protein_id": "XP_005272537.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 676,
"cds_start": 176,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272480.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asn59Ile",
"transcript": "XM_017026824.2",
"protein_id": "XP_016882313.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 673,
"cds_start": 176,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026824.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asn59Ile",
"transcript": "XM_017026825.2",
"protein_id": "XP_016882314.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 658,
"cds_start": 176,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026825.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.-132A>T",
"hgvs_p": null,
"transcript": "NM_001297418.2",
"protein_id": "NP_001284347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": null,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297418.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPM",
"gene_hgnc_id": 5046,
"hgvs_c": "c.-132A>T",
"hgvs_p": null,
"transcript": "XM_047438860.1",
"protein_id": "XP_047294816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 610,
"cds_start": null,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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],
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{
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{
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],
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "HNRNPM",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84161e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3060315251350403,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.137,
"revel_prediction": "Benign",
"alphamissense_score": 0.198,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.232,
"phylop100way_prediction": "Benign",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005968.5",
"gene_symbol": "HNRNPM",
"hgnc_id": 5046,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Asn59Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}