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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: 15-66487249-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=66487249&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 66487249,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002755.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Pro306Leu",
"transcript": "NM_002755.4",
"protein_id": "NP_002746.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 393,
"cds_start": 917,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307102.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002755.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Pro306Leu",
"transcript": "ENST00000307102.10",
"protein_id": "ENSP00000302486.5",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 393,
"cds_start": 917,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002755.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307102.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Pro306Leu",
"transcript": "ENST00000685172.1",
"protein_id": "ENSP00000509604.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 417,
"cds_start": 917,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685172.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Pro323Leu",
"transcript": "ENST00000689951.1",
"protein_id": "ENSP00000509308.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 410,
"cds_start": 968,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689951.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"transcript": "ENST00000692683.1",
"protein_id": "ENSP00000508437.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 371,
"cds_start": 851,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692683.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.839C>T",
"hgvs_p": "p.Pro280Leu",
"transcript": "ENST00000901531.1",
"protein_id": "ENSP00000571590.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 367,
"cds_start": 839,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901531.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Pro268Leu",
"transcript": "ENST00000901534.1",
"protein_id": "ENSP00000571593.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 355,
"cds_start": 803,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901534.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Pro263Leu",
"transcript": "ENST00000691576.1",
"protein_id": "ENSP00000510066.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 350,
"cds_start": 788,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691576.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.776C>T",
"hgvs_p": "p.Pro259Leu",
"transcript": "ENST00000901533.1",
"protein_id": "ENSP00000571592.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 346,
"cds_start": 776,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901533.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Pro258Leu",
"transcript": "NM_001411065.1",
"protein_id": "NP_001397994.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 345,
"cds_start": 773,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411065.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Pro258Leu",
"transcript": "ENST00000693150.1",
"protein_id": "ENSP00000510309.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 345,
"cds_start": 773,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693150.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.770C>T",
"hgvs_p": "p.Pro257Leu",
"transcript": "ENST00000685763.1",
"protein_id": "ENSP00000509016.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 344,
"cds_start": 770,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685763.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.692C>T",
"hgvs_p": "p.Pro231Leu",
"transcript": "ENST00000920480.1",
"protein_id": "ENSP00000590539.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 318,
"cds_start": 692,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920480.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.590C>T",
"hgvs_p": "p.Pro197Leu",
"transcript": "ENST00000686347.1",
"protein_id": "ENSP00000509027.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 284,
"cds_start": 590,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686347.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Pro171Leu",
"transcript": "ENST00000920479.1",
"protein_id": "ENSP00000590538.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 258,
"cds_start": 512,
"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": "ENST00000920479.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Pro130Leu",
"transcript": "ENST00000566326.1",
"protein_id": "ENSP00000456438.1",
"transcript_support_level": 5,
"aa_start": 130,
"aa_end": null,
"aa_length": 217,
"cds_start": 389,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566326.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"transcript": "XM_011521783.4",
"protein_id": "XP_011520085.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 371,
"cds_start": 851,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521783.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.839C>T",
"hgvs_p": "p.Pro280Leu",
"transcript": "XM_017022411.3",
"protein_id": "XP_016877900.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 367,
"cds_start": 839,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022411.3"
},
{
"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": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.896-1966C>T",
"hgvs_p": null,
"transcript": "ENST00000691937.1",
"protein_id": "ENSP00000508768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": null,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691937.1"
},
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "c.694-1966C>T",
"hgvs_p": null,
"transcript": "ENST00000901532.1",
"protein_id": "ENSP00000571591.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": null,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901532.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "n.649C>T",
"hgvs_p": null,
"transcript": "ENST00000684779.1",
"protein_id": "ENSP00000508681.1",
"transcript_support_level": null,
"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": "ENST00000684779.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K1",
"gene_hgnc_id": 6840,
"hgvs_c": "n.1275C>T",
"hgvs_p": null,
"transcript": "ENST00000687191.1",
"protein_id": null,
"transcript_support_level": null,
"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",
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{
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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": "MAP2K1",
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"dbsnp": "rs1555420826",
"frequency_reference_population": 6.8408156e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84082e-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": 0.40210607647895813,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.545,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2504,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.092,
"phylop100way_prediction": "Uncertain_significance",
"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,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002755.4",
"gene_symbol": "MAP2K1",
"hgnc_id": 6840,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Pro306Leu"
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],
"clinvar_disease": "RASopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "RASopathy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}